12-70178589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178589
    reference: chr 12
allele count: 6
allele frequency: 4.947555907381753e-5
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.231A>G
  hgvsp: ENST00000547055.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.648A>G
  hgvsp: ENST00000378809.4:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-19A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.268A>G
  hgvsp: ENST00000550647.1:c.268A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.648A>G
  hgvsp: ENST00000552199.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.648A>G
  hgvsp: ENST00000550536.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.600A>G
  hgvsp: ENST00000247833.7:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*471A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.600A>G
  hgvsp: ENST00000483530.2:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.600A>G
  hgvsp: ENST00000417413.3:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-19A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.600A>G
  hgvsp: ENST00000378815.6:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.648A>G
  hgvsp: ENST00000362025.5:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu216Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-70178594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178594
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.273A>G
  hgvsp: ENSP00000448218.1:p.Glu92Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.605A>G
  hgvsp: ENSP00000247833.7:p.Glu202Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.653A>G
  hgvsp: ENSP00000447300.1:p.Glu218Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-14A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.605A>G
  hgvsp: ENSP00000368092.6:p.Glu202Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.236A>G
  hgvsp: ENSP00000448688.1:p.Glu79Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.605A>G
  hgvsp: ENSP00000436304.2:p.Glu202Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.653A>G
  hgvsp: ENSP00000368086.4:p.Glu218Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.605A>G
  hgvsp: ENSP00000419216.2:p.Glu202Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.653A>G
  hgvsp: ENSP00000448944.1:p.Glu218Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.653A>G
  hgvsp: ENSP00000355381.5:p.Glu218Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*476A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu218Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-70178596-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178596
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178596
    reference: chr 12
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.238G>T
  hgvsp: ENSP00000448688.1:p.Val80Phe
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+1G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+1G>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.654+1G>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-70178604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178604
    reference: chr 12
allele count: 5
allele frequency: 4.131411951348493e-5
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.246A>G
  hgvsp: ENST00000547055.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+9A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+9A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu82Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-70178609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178609
    reference: chr 12
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.251C>T
  hgvsp: ENSP00000448688.1:p.Thr84Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+14C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+14C>T
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr84Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-70178620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178620
    reference: chr 12
allele count: 2
allele frequency: 1.66814019050161e-5
allele num: 119894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.262A>G
  hgvsp: ENSP00000448688.1:p.Thr88Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+25A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34482
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr88Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-70178642-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178642
    reference: chr 12
allele count: 3
allele frequency: 2.627522421524664e-5
allele num: 114176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*8A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+47A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+47A>T
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

12-70178644-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178644
    reference: chr 12
allele count: 1
allele frequency: 8.839232047519711e-6
allele num: 113132
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+49A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+49A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-70178645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178645
    reference: chr 12
allele count: 3
allele frequency: 2.651769614255914e-5
allele num: 113132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*11T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+50T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+50T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

12-70178655-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178655
    reference: chr 12
allele count: 1
allele frequency: 9.001062125330788e-6
allele num: 111098
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*21T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+60T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+60T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-70178656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178656
    reference: chr 12
allele count: 2
allele frequency: 1.811167659790267e-5
allele num: 110426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+61G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+61G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-70178663-G-GGATCTCCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178672
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 108338
alternate allele: GGATCTCCAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*29_*30insGATCTCCAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-70178666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178666
    reference: chr 12
allele count: 4
allele frequency: 3.762085700312253e-5
allele num: 106324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+71G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+71G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-70178675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178675
    reference: chr 12
allele count: 1
allele frequency: 9.807767752059631e-6
allele num: 101960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+80A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+80A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-70178679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178679
    reference: chr 12
allele count: 3
allele frequency: 3.065729234793983e-5
allele num: 97856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+84A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+84A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-70178679-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70178679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70178678
    reference: chr 12
allele count: 1
allele frequency: 1.021909744931328e-5
allele num: 97856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.654+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.274+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.606+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.606+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.606+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.654+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448688
  ensembl transcript: ENST00000547055
  gene symbol: RAB3IP
  hgvsc: ENST00000547055.1:c.*46delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-13+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*477+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-13+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.654+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.606+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.654+85delT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-13+85delT
  variant of: http://identifiers.org/hgnc/16508
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17555
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: AT
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-70188167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188167
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188167
    reference: chr 12
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-50G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-50G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-70188175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188175
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188175
    reference: chr 12
allele count: 5
allele frequency: 4.188937852918014e-5
allele num: 119362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-42A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-42A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21559
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-70188180-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188180
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188180
    reference: chr 12
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-37A>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-37A>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-70188184-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188183
    reference: chr 12
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-32delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-32delG
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: TG
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-70188185-GTTTCTAAAATTTGAGATGTTAACTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188160
    reference: chr 12
allele count: 728
allele frequency: 6.094294133404768e-3
allele num: 119456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 22076
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 3.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 120
genotype quality: GenotypeQuality
num of homozygotes: 12
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: GTTTCTAAAATTTGAGATGTTAACTT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-70188188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188188
    reference: chr 12
allele count: 1
allele frequency: 8.464676903282601e-6
allele num: 118138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-29T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-29T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-70188192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188192
    reference: chr 12
allele count: 1
allele frequency: 8.459807454782329e-6
allele num: 118206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-25A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-25A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-70188198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188198
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188198
    reference: chr 12
allele count: 2
allele frequency: 1.689588754097253e-5
allele num: 118372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-19G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-19G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-70188199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188199
    reference: chr 12
allele count: 4
allele frequency: 3.379063323646685e-5
allele num: 118376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-18A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-18A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22515
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

12-70188201-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188198
    reference: chr 12
allele count: 2
allele frequency: 1.688248104941502e-5
allele num: 118466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-14_*478-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-14_607-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-14_607-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-14_-12-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-14_607-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-14_655-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-14_-12-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-14_655-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-14_-12-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-14_655-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-14_655-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-14_275-12delGTT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-14_607-12delGTT
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22569
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: ATGT
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

12-70188202-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188202
    reference: chr 12
allele count: 1
allele frequency: 8.441383036196651e-6
allele num: 118464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-15T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-15T>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-70188202-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188202
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188201
    reference: chr 12
allele count: 1
allele frequency: 8.441383036196651e-6
allele num: 118464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-14delG
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-14delG
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: TG
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-70188203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188203
    reference: chr 12
allele count: 1
allele frequency: 8.441240524707511e-6
allele num: 118466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.607-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*478-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.275-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.655-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.607-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-12-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-12-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.655-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.607-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-12-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.655-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.607-14G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.655-14G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-70188220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188220
    reference: chr 12
allele count: 7
allele frequency: 5.841218978954923e-5
allele num: 119838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.658G>A
  hgvsp: ENSP00000355381.5:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.610G>A
  hgvsp: ENSP00000419216.2:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*481G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.278G>A
  hgvsp: ENSP00000448218.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.658G>A
  hgvsp: ENSP00000447300.1:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.610G>A
  hgvsp: ENSP00000436304.2:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.658G>A
  hgvsp: ENSP00000368086.4:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.610G>A
  hgvsp: ENSP00000368092.6:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.610G>A
  hgvsp: ENSP00000247833.7:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.658G>A
  hgvsp: ENSP00000448944.1:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-9G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala220Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-70188226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188226
    reference: chr 12
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.664A>G
  hgvsp: ENSP00000368086.4:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.616A>G
  hgvsp: ENSP00000436304.2:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*487A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.284A>G
  hgvsp: ENSP00000448218.1:p.Lys96Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.616A>G
  hgvsp: ENSP00000247833.7:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.616A>G
  hgvsp: ENSP00000419216.2:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.664A>G
  hgvsp: ENSP00000448944.1:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.664A>G
  hgvsp: ENSP00000447300.1:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.664A>G
  hgvsp: ENSP00000355381.5:p.Lys222Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.616A>G
  hgvsp: ENSP00000368092.6:p.Lys206Glu
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.-3A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys222Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-70188235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188235
    reference: chr 12
allele count: 18
allele frequency: 1.499775033744938e-4
allele num: 120018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.673A>G
  hgvsp: ENSP00000447300.1:p.Arg225Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.625A>G
  hgvsp: ENSP00000436304.2:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.673A>G
  hgvsp: ENSP00000448944.1:p.Arg225Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*496A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.625A>G
  hgvsp: ENSP00000419216.2:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.7A>G
  hgvsp: ENSP00000323349.9:p.Arg3Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.625A>G
  hgvsp: ENSP00000368092.6:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.293A>G
  hgvsp: ENSP00000448218.1:p.Arg99Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.673A>G
  hgvsp: ENSP00000368086.4:p.Arg225Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.625A>G
  hgvsp: ENSP00000247833.7:p.Arg209Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.673A>G
  hgvsp: ENSP00000355381.5:p.Arg225Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.7A>G
  hgvsp: ENSP00000448027.1:p.Arg3Gly
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.7A>G
  hgvsp: ENSP00000448773.1:p.Arg3Gly
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg225Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-70188237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188237
    reference: chr 12
allele count: 2
allele frequency: 1.666388935177471e-5
allele num: 120020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.675A>G
  hgvsp: ENST00000552199.1:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.9A>G
  hgvsp: ENST00000553099.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.627A>G
  hgvsp: ENST00000483530.2:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.9A>G
  hgvsp: ENST00000325555.9:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.675A>G
  hgvsp: ENST00000378809.4:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.9A>G
  hgvsp: ENST00000551641.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.675A>G
  hgvsp: ENST00000550536.1:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*498A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.627A>G
  hgvsp: ENST00000247833.7:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.295A>G
  hgvsp: ENST00000550647.1:c.295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.627A>G
  hgvsp: ENST00000378815.6:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.675A>G
  hgvsp: ENST00000362025.5:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.627A>G
  hgvsp: ENST00000417413.3:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg225Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-70188246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188246
    reference: chr 12
allele count: 1
allele frequency: 8.3365290027844e-6
allele num: 119954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.684T>C
  hgvsp: ENST00000552199.1:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.636T>C
  hgvsp: ENST00000483530.2:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.684T>C
  hgvsp: ENST00000378809.4:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.18T>C
  hgvsp: ENST00000551641.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.684T>C
  hgvsp: ENST00000362025.5:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.684T>C
  hgvsp: ENST00000550536.1:c.684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.304T>C
  hgvsp: ENST00000550647.1:c.304T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*507T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.18T>C
  hgvsp: ENST00000553099.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.636T>C
  hgvsp: ENST00000247833.7:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.18T>C
  hgvsp: ENST00000325555.9:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.636T>C
  hgvsp: ENST00000378815.6:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.636T>C
  hgvsp: ENST00000417413.3:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn228Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-70188249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188249
    reference: chr 12
allele count: 7
allele frequency: 5.8386854616732e-5
allele num: 119890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.687C>T
  hgvsp: ENST00000552199.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.639C>T
  hgvsp: ENST00000247833.7:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.639C>T
  hgvsp: ENST00000417413.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.639C>T
  hgvsp: ENST00000483530.2:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.21C>T
  hgvsp: ENST00000325555.9:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.687C>T
  hgvsp: ENST00000362025.5:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.307C>T
  hgvsp: ENST00000550647.1:c.307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.21C>T
  hgvsp: ENST00000553099.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.21C>T
  hgvsp: ENST00000551641.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.687C>T
  hgvsp: ENST00000378809.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.639C>T
  hgvsp: ENST00000378815.6:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.687C>T
  hgvsp: ENST00000550536.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*510C>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ile229Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-70188250-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188250
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188250
    reference: chr 12
allele count: 4
allele frequency: 3.336224728097685e-5
allele num: 119896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.640A>C
  hgvsp: ENSP00000419216.2:p.Lys214Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.308A>C
  hgvsp: ENSP00000448218.1:p.Lys104Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.688A>C
  hgvsp: ENSP00000368086.4:p.Lys230Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.22A>C
  hgvsp: ENSP00000448027.1:p.Lys8Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.22A>C
  hgvsp: ENSP00000323349.9:p.Lys8Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.688A>C
  hgvsp: ENSP00000355381.5:p.Lys230Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.640A>C
  hgvsp: ENSP00000436304.2:p.Lys214Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.640A>C
  hgvsp: ENSP00000247833.7:p.Lys214Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.22A>C
  hgvsp: ENSP00000448773.1:p.Lys8Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.688A>C
  hgvsp: ENSP00000447300.1:p.Lys230Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.688A>C
  hgvsp: ENSP00000448944.1:p.Lys230Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.640A>C
  hgvsp: ENSP00000368092.6:p.Lys214Gln
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*511A>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys230Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-70188262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188262
    reference: chr 12
allele count: 1
allele frequency: 8.356452852893003e-6
allele num: 119668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.34G>C
  hgvsp: ENSP00000448027.1:p.Ala12Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.652G>C
  hgvsp: ENSP00000247833.7:p.Ala218Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.34G>C
  hgvsp: ENSP00000448773.1:p.Ala12Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.320G>C
  hgvsp: ENSP00000448218.1:p.Ala108Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.700G>C
  hgvsp: ENSP00000355381.5:p.Ala234Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*523G>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.652G>C
  hgvsp: ENSP00000419216.2:p.Ala218Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.700G>C
  hgvsp: ENSP00000368086.4:p.Ala234Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.700G>C
  hgvsp: ENSP00000448944.1:p.Ala234Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.34G>C
  hgvsp: ENSP00000323349.9:p.Ala12Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.700G>C
  hgvsp: ENSP00000447300.1:p.Ala234Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.652G>C
  hgvsp: ENSP00000368092.6:p.Ala218Pro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.652G>C
  hgvsp: ENSP00000436304.2:p.Ala218Pro
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala234Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-70188262-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188262
    reference: chr 12
allele count: 2
allele frequency: 1.671290570578601e-5
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.700G>T
  hgvsp: ENSP00000355381.5:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.34G>T
  hgvsp: ENSP00000448027.1:p.Ala12Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.700G>T
  hgvsp: ENSP00000448944.1:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.34G>T
  hgvsp: ENSP00000448773.1:p.Ala12Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.652G>T
  hgvsp: ENSP00000419216.2:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.320G>T
  hgvsp: ENSP00000448218.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.652G>T
  hgvsp: ENSP00000247833.7:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*523G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.34G>T
  hgvsp: ENSP00000323349.9:p.Ala12Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.700G>T
  hgvsp: ENSP00000447300.1:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.700G>T
  hgvsp: ENSP00000368086.4:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.652G>T
  hgvsp: ENSP00000436304.2:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.652G>T
  hgvsp: ENSP00000368092.6:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala234Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-70188285-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188285
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188285
    reference: chr 12
allele count: 3
allele frequency: 2.539575044442563e-5
allele num: 118130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.343A>C
  hgvsp: ENST00000550647.1:c.343A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.675A>C
  hgvsp: ENST00000483530.2:c.675A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.57A>C
  hgvsp: ENST00000325555.9:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.723A>C
  hgvsp: ENST00000362025.5:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.675A>C
  hgvsp: ENST00000247833.7:c.675A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.675A>C
  hgvsp: ENST00000417413.3:c.675A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.723A>C
  hgvsp: ENST00000550536.1:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.723A>C
  hgvsp: ENST00000378809.4:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.57A>C
  hgvsp: ENST00000551641.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.57A>C
  hgvsp: ENST00000553099.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.723A>C
  hgvsp: ENST00000552199.1:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.675A>C
  hgvsp: ENST00000378815.6:c.675A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*546A>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala241Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-70188286-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188286
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188286
    reference: chr 12
allele count: 1
allele frequency: 8.477162524159914e-6
allele num: 117964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.58C>A
  hgvsp: ENSP00000323349.9:p.Gln20Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.724C>A
  hgvsp: ENSP00000368086.4:p.Gln242Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.58C>A
  hgvsp: ENSP00000448773.1:p.Gln20Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.676C>A
  hgvsp: ENSP00000247833.7:p.Gln226Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.344C>A
  hgvsp: ENSP00000448218.1:p.Gln116Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.724C>A
  hgvsp: ENSP00000447300.1:p.Gln242Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.676C>A
  hgvsp: ENSP00000368092.6:p.Gln226Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.724C>A
  hgvsp: ENSP00000355381.5:p.Gln242Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.724C>A
  hgvsp: ENSP00000448944.1:p.Gln242Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*547C>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.676C>A
  hgvsp: ENSP00000419216.2:p.Gln226Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.676C>A
  hgvsp: ENSP00000436304.2:p.Gln226Lys
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.58C>A
  hgvsp: ENSP00000448027.1:p.Gln20Lys
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln242Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-70188313-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188313
    reference: chr 12
allele count: 1
allele frequency: 9.294716882923746e-6
allele num: 107588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+19T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+19T>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-70188318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188318
    reference: chr 12
allele count: 5
allele frequency: 4.714935028195311e-5
allele num: 106046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+24G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+24G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-70188318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188318
    reference: chr 12
allele count: 1
allele frequency: 9.429870056390623e-6
allele num: 106046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+24G>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+24G>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-70188320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188320
    reference: chr 12
allele count: 1
allele frequency: 9.475798809839669e-6
allele num: 105532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+26A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+26A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-70188322-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188322
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188318
    reference: chr 12
allele count: 1
allele frequency: 9.517464547444561e-6
allele num: 105070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+33_684+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+33_66+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+33_732+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+33_732+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+33_684+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+33_732+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+33_66+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+33_*555+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+33_352+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+33_732+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+33_684+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+33_684+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+33_66+36delAAAT
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: AAAAT
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-70188331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188331
    reference: chr 12
allele count: 1
allele frequency: 9.927529038022437e-6
allele num: 100730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+37T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+37T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-70188345-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188345
    reference: chr 12
allele count: 1
allele frequency: 1.085163642677316e-5
allele num: 92152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+51T>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+51T>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-70188346-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188346
    reference: chr 12
allele count: 9470
allele frequency: 1.043365210876559e-1
allele num: 90764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.684+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.684+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.684+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.732+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.684+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.732+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.66+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*555+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.732+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.352+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.66+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.732+52T>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.66+52T>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 1.75e1
  variant carriers: 2405
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 1.25e1
  variant carriers: 3036
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 676
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 7.5e0
  variant carriers: 1688
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
num of homozygotes: 602
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-70188882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188882
    reference: chr 12
allele count: 6
allele frequency: 5.29567519858782e-5
allele num: 113300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-39C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-39C>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24743
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-70188883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188883
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188883
    reference: chr 12
allele count: 6
allele frequency: 5.288486963879634e-5
allele num: 113454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-38G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-38G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25541
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-70188894-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188894
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188894
    reference: chr 12
allele count: 1
allele frequency: 8.687644432088684e-6
allele num: 115106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-27A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-27A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-70188899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188899
    reference: chr 12
allele count: 30
allele frequency: 2.581888909926502e-4
allele num: 116194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-22A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-22A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33895
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-70188900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188900
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188900
    reference: chr 12
allele count: 1
allele frequency: 8.592837011067574e-6
allele num: 116376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-21C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-21C>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34132
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-70188901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188901
    reference: chr 12
allele count: 2
allele frequency: 1.713120792147054e-5
allele num: 116746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-20T>C
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-20T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-70188917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188917
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188917
    reference: chr 12
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-4C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-4C>T
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.733-4C>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS

12-70188918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188918
    reference: chr 12
allele count: 456
allele frequency: 3.811052050947748e-3
allele num: 119652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*556-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.733-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.67-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.733-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.733-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.733-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.685-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.685-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.353-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.685-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.685-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.67-3A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.67-3A>G
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 16155
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.733-3A>G
num of homozygotes: 6
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-70188922-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188922
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188922
    reference: chr 12
allele count: 3
allele frequency: 2.499083669321249e-5
allele num: 120044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.68T>C
  hgvsp: ENSP00000448027.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.68T>C
  hgvsp: ENSP00000448773.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.686T>C
  hgvsp: ENSP00000436304.2:p.Ile229Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.734T>C
  hgvsp: ENSP00000447300.1:p.Ile245Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.686T>C
  hgvsp: ENSP00000368092.6:p.Ile229Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.354T>C
  hgvsp: ENSP00000448218.1:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.68T>C
  hgvsp: ENSP00000323349.9:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.686T>C
  hgvsp: ENSP00000419216.2:p.Ile229Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.734T>C
  hgvsp: ENSP00000355381.5:p.Ile245Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.686T>C
  hgvsp: ENSP00000247833.7:p.Ile229Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.734T>C
  hgvsp: ENSP00000448944.1:p.Ile245Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.734T>C
  hgvsp: ENSP00000368086.4:p.Ile245Thr
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*557T>C
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile245Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-70188937-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188937
    reference: chr 12
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*572C>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.701C>A
  hgvsp: ENSP00000419216.2:p.Ala234Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.701C>A
  hgvsp: ENSP00000368092.6:p.Ala234Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.749C>A
  hgvsp: ENSP00000368086.4:p.Ala250Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.369C>A
  hgvsp: ENSP00000448218.1:p.Ala124Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.749C>A
  hgvsp: ENSP00000355381.5:p.Ala250Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.749C>A
  hgvsp: ENSP00000448944.1:p.Ala250Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.701C>A
  hgvsp: ENSP00000436304.2:p.Ala234Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.749C>A
  hgvsp: ENSP00000447300.1:p.Ala250Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.83C>A
  hgvsp: ENSP00000448773.1:p.Ala28Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.83C>A
  hgvsp: ENSP00000448027.1:p.Ala28Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.701C>A
  hgvsp: ENSP00000247833.7:p.Ala234Asp
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.83C>A
  hgvsp: ENSP00000323349.9:p.Ala28Asp
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala250Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

12-70188941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188941
    reference: chr 12
allele count: 4
allele frequency: 3.307972213033411e-5
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.705A>G
  hgvsp: ENST00000378815.6:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.753A>G
  hgvsp: ENST00000378809.4:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.87A>G
  hgvsp: ENST00000325555.9:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.753A>G
  hgvsp: ENST00000550536.1:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.753A>G
  hgvsp: ENST00000362025.5:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*576A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.705A>G
  hgvsp: ENST00000247833.7:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.87A>G
  hgvsp: ENST00000553099.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.373A>G
  hgvsp: ENST00000550647.1:c.373A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.87A>G
  hgvsp: ENST00000551641.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.753A>G
  hgvsp: ENST00000552199.1:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.705A>G
  hgvsp: ENST00000417413.3:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.705A>G
  hgvsp: ENST00000483530.2:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu251Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-70188950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188950
    reference: chr 12
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.382A>G
  hgvsp: ENST00000550647.1:c.382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.762A>G
  hgvsp: ENST00000552199.1:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.762A>G
  hgvsp: ENST00000362025.5:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*585A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.714A>G
  hgvsp: ENST00000417413.3:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.762A>G
  hgvsp: ENST00000550536.1:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.96A>G
  hgvsp: ENST00000553099.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.96A>G
  hgvsp: ENST00000325555.9:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.714A>G
  hgvsp: ENST00000483530.2:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.96A>G
  hgvsp: ENST00000551641.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.714A>G
  hgvsp: ENST00000378815.6:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.762A>G
  hgvsp: ENST00000378809.4:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.714A>G
  hgvsp: ENST00000247833.7:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala254Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-70188963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188963
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.727G>A
  hgvsp: ENSP00000368092.6:p.Val243Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.109G>A
  hgvsp: ENSP00000448773.1:p.Val37Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.775G>A
  hgvsp: ENSP00000448944.1:p.Val259Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.395G>A
  hgvsp: ENSP00000448218.1:p.Val133Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.727G>A
  hgvsp: ENSP00000247833.7:p.Val243Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.727G>A
  hgvsp: ENSP00000419216.2:p.Val243Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.775G>A
  hgvsp: ENSP00000368086.4:p.Val259Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.109G>A
  hgvsp: ENSP00000448027.1:p.Val37Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.727G>A
  hgvsp: ENSP00000436304.2:p.Val243Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.109G>A
  hgvsp: ENSP00000323349.9:p.Val37Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.775G>A
  hgvsp: ENSP00000447300.1:p.Val259Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.775G>A
  hgvsp: ENSP00000355381.5:p.Val259Ile
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*598G>A
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val259Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-70188973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188973
    reference: chr 12
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.737G>A
  hgvsp: ENSP00000368092.6:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.785G>A
  hgvsp: ENSP00000368086.4:p.Ser262Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.785G>A
  hgvsp: ENSP00000447300.1:p.Ser262Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.785G>A
  hgvsp: ENSP00000355381.5:p.Ser262Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.785G>A
  hgvsp: ENSP00000448944.1:p.Ser262Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.119G>A
  hgvsp: ENSP00000448027.1:p.Ser40Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.737G>A
  hgvsp: ENSP00000419216.2:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.737G>A
  hgvsp: ENSP00000247833.7:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*608G>A
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.405G>A
  hgvsp: ENSP00000448218.1:p.Ser136Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.119G>A
  hgvsp: ENSP00000448773.1:p.Ser40Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.737G>A
  hgvsp: ENSP00000436304.2:p.Ser246Asn
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.119G>A
  hgvsp: ENSP00000323349.9:p.Ser40Asn
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser262Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-70188978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188978
    reference: chr 12
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.124C>T
  hgvsp: ENSP00000323349.9:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.742C>T
  hgvsp: ENSP00000247833.7:p.Pro248Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.790C>T
  hgvsp: ENSP00000355381.5:p.Pro264Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.742C>T
  hgvsp: ENSP00000419216.2:p.Pro248Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.124C>T
  hgvsp: ENSP00000448027.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.742C>T
  hgvsp: ENSP00000368092.6:p.Pro248Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.410C>T
  hgvsp: ENSP00000448218.1:p.Pro138Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.790C>T
  hgvsp: ENSP00000447300.1:p.Pro264Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.124C>T
  hgvsp: ENSP00000448773.1:p.Pro42Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.790C>T
  hgvsp: ENSP00000448944.1:p.Pro264Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.742C>T
  hgvsp: ENSP00000436304.2:p.Pro248Ser
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*613C>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.790C>T
  hgvsp: ENSP00000368086.4:p.Pro264Ser
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro264Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-70188980-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188980
    reference: chr 12
allele count: 43
allele frequency: 3.548674611296339e-4
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.126A>T
  hgvsp: ENST00000325555.9:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.792A>T
  hgvsp: ENST00000378809.4:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*615A>T
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.792A>T
  hgvsp: ENST00000552199.1:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.412A>T
  hgvsp: ENST00000550647.1:c.412A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.126A>T
  hgvsp: ENST00000551641.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.744A>T
  hgvsp: ENST00000483530.2:c.744A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.126A>T
  hgvsp: ENST00000553099.1:c.126A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.792A>T
  hgvsp: ENST00000550536.1:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.744A>T
  hgvsp: ENST00000247833.7:c.744A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.792A>T
  hgvsp: ENST00000362025.5:c.792A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.744A>T
  hgvsp: ENST00000417413.3:c.744A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.744A>T
  hgvsp: ENST00000378815.6:c.744A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro264Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-70188981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188981
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188981
    reference: chr 12
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.413A>G
  hgvsp: ENSP00000448218.1:p.Thr139Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.127A>G
  hgvsp: ENSP00000448027.1:p.Thr43Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.127A>G
  hgvsp: ENSP00000448773.1:p.Thr43Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.793A>G
  hgvsp: ENSP00000355381.5:p.Thr265Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.745A>G
  hgvsp: ENSP00000368092.6:p.Thr249Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.793A>G
  hgvsp: ENSP00000447300.1:p.Thr265Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.745A>G
  hgvsp: ENSP00000436304.2:p.Thr249Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.745A>G
  hgvsp: ENSP00000419216.2:p.Thr249Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*616A>G
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.793A>G
  hgvsp: ENSP00000448944.1:p.Thr265Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.793A>G
  hgvsp: ENSP00000368086.4:p.Thr265Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.745A>G
  hgvsp: ENSP00000247833.7:p.Thr249Ala
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.127A>G
  hgvsp: ENSP00000323349.9:p.Thr43Ala
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr265Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-70188984-T-TCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70188984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 70188987
    reference: chr 12
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: TCTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448218
  ensembl transcript: ENST00000550647
  gene symbol: RAB3IP
  hgvsc: ENST00000550647.1:c.417_418insTCC
  hgvsp: ENSP00000448218.1:p.Ser140_Pro141insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000355381
  ensembl transcript: ENST00000362025
  gene symbol: RAB3IP
  hgvsc: ENST00000362025.5:c.797_798insTCC
  hgvsp: ENSP00000355381.5:p.Ser266_Pro267insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000436304
  ensembl transcript: ENST00000417413
  gene symbol: RAB3IP
  hgvsc: ENST00000417413.3:c.749_750insTCC
  hgvsp: ENSP00000436304.2:p.Ser250_Pro251insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448027
  ensembl transcript: ENST00000553099
  gene symbol: RAB3IP
  hgvsc: ENST00000553099.1:c.131_132insTCC
  hgvsp: ENSP00000448027.1:p.Ser44_Pro45insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368092
  ensembl transcript: ENST00000378815
  gene symbol: RAB3IP
  hgvsc: ENST00000378815.6:c.749_750insTCC
  hgvsp: ENSP00000368092.6:p.Ser250_Pro251insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448773
  ensembl transcript: ENST00000551641
  gene symbol: RAB3IP
  hgvsc: ENST00000551641.1:c.131_132insTCC
  hgvsp: ENSP00000448773.1:p.Ser44_Pro45insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000368086
  ensembl transcript: ENST00000378809
  gene symbol: RAB3IP
  hgvsc: ENST00000378809.4:c.797_798insTCC
  hgvsp: ENSP00000368086.4:p.Ser266_Pro267insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000419216
  ensembl transcript: ENST00000483530
  gene symbol: RAB3IP
  hgvsc: ENST00000483530.2:c.749_750insTCC
  hgvsp: ENSP00000419216.2:p.Ser250_Pro251insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000448944
  ensembl transcript: ENST00000552199
  gene symbol: RAB3IP
  hgvsc: ENST00000552199.1:c.797_798insTCC
  hgvsp: ENSP00000448944.1:p.Ser266_Pro267insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000247833
  ensembl transcript: ENST00000247833
  gene symbol: RAB3IP
  hgvsc: ENST00000247833.7:c.749_750insTCC
  hgvsp: ENSP00000247833.7:p.Ser250_Pro251insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447499
  ensembl transcript: ENST00000547591
  gene symbol: RAB3IP
  hgvsc: ENST00000547591.1:c.*620_*621insTCC
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000323349
  ensembl transcript: ENST00000325555
  gene symbol: RAB3IP
  hgvsc: ENST00000325555.9:c.131_132insTCC
  hgvsp: ENSP00000323349.9:p.Ser44_Pro45insPro
  variant of: http://identifiers.org/hgnc/16508
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000127328
  ensembl protein: ENSP00000447300
  ensembl transcript: ENST00000550536
  gene symbol: RAB3IP
  hgvsc: ENST00000550536.1:c.797_798insTCC
  hgvsp: ENSP00000447300.1:p.Ser266_Pro267insPro
  variant of: http://identifiers.org/hgnc/16508
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser266_Pro267insPro
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 16774
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 273
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3827
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50069
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.849114703618168e-4
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.252e0

DP
type: SiteQuality
SIO_000300: 1.549145e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36228
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
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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variant carriers: 0

African
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

Latino
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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

South Asian
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allele frequency: 0.0e0
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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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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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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

African
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allele frequency: 0.0e0
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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: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

East Asian
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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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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East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.510735550610453e-5
allele num: 66508
num of homozygotes: 0

South Asian
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.01504507492387e-5
allele num: 66334
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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MQ
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SIO_000300: 5.97e1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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European (Finnish)
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Other
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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variant carriers: 2

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

South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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ReadPosRankSum
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FS
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.616658044490429e-5
allele num: 61856
num of homozygotes: 0

East Asian
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allele frequency: 2.529084471421346e-4
allele num: 7908
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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Latino
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.649566164098842e-5
allele num: 60622
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.53e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.321486697445776e-5
allele num: 60214
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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MQRankSum
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FS
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ClippingRankSum
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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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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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FS
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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MQRankSum
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BaseQRankSum
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FS
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QD
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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Other
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South Asian
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East Asian
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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QD
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

Latino
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allele frequency: 2.046663937781416e-4
allele num: 9772
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.895518993100311e-5
allele num: 52756
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.895518993100311e-5
allele num: 52756
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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MQRankSum
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SIO_000300: -4.11e-1

FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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SIO_000300: -3.87e-1

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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

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

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 1.6e-3

BaseQRankSum
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SIO_000300: -1.495e0

ClippingRankSum
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DP
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MQ
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FS
type: SiteQuality
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MQRankSum
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SIO_000300: 6.7e-1

QD
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SIO_000300: 1.626e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
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SIO_000300: 1.8e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.838460595661233e-4
allele num: 16318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -8.83e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.766132e6

MQ
type: SiteQuality
SIO_000300: 5.893e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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

African
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allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -2.207e0

MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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SIO_000300: 5.46e0

QD
type: SiteQuality
SIO_000300: 2.489e1

GenotypeDepth
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variant carriers: 0

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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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FS
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SIO_000300: 0.0e0

MQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.138e1

GenotypeDepth
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variant carriers: 9

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
type: Population
allele count: 21
allele frequency: 2.463632097606757e-3
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.291729962933707e-4
allele num: 65828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.638568829593693e-3
allele num: 6596
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.288690111505943e-4
allele num: 16322
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African
type: Population
allele count: 3
allele frequency: 3.0e-4
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.013513513513514e-2
allele num: 888
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Latino
type: Population
allele count: 616
allele frequency: 5.452292441140025e-2
allele num: 11298
num of homozygotes: 11

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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SIO_000300: -5.6e-2

MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520542529574552e-5
allele num: 65766
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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SIO_000300: 5.951e1

ClippingRankSum
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SIO_000300: -7.4e-1

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
allele num: 65804
num of homozygotes: 0

Other
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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
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European (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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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.126700159294204e-5
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ReadPosRankSum
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SIO_000300: -7.83e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10174
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
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num of homozygotes: 0

African
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allele frequency: 1.996805111821086e-4
allele num: 10016
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 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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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 8.5e-1

DP
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.31e1

GenotypeDepth
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variant carriers: 0

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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bin: 9.75e1
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Other
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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
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.445286709866732e-4
allele num: 16358
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.033888534935227e-5
allele num: 65922
num of homozygotes: 0

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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South Asian
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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DP
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VQSLOD
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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: 65906
num of homozygotes: 0

European (Finnish)
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Latino
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African
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East Asian
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South Asian
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BaseQRankSum
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FS
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MQ
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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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 count: 0
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allele num: 65906
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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DP
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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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

East Asian
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allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.059257914169845e-4
allele num: 66084
num of homozygotes: 0

QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: -2.089e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

Latino
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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
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allele num: 888
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East Asian
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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: 10120
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

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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DP
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.859e1

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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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele frequency: 1.098766939323648e-3
allele num: 16382
num of homozygotes: 0

Latino
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East Asian
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Other
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European (Finnish)
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 11354
num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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African
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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VQSLOD
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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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European (Non-Finnish)
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Other
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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MQRankSum
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QD
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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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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: 7

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.061056205663008e-4
allele num: 65972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
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SIO_000300: 6.29e-1

VQSLOD
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SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.821301e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
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SIO_000300: -2.67e0

QD
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SIO_000300: 9.859999999999999e0

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
allele num: 65974
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.524850193866761e-4
allele num: 11348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
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SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
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QD
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MQ
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SIO_000300: 5.963e1

InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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SIO_000300: 2.13e-1

ClippingRankSum
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SIO_000300: 2.96e-1

DP
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SIO_000300: 1.821161e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 5.412e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.97e-1

DP
type: SiteQuality
SIO_000300: 1.819601e6

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
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SIO_000300: 7.98e0

ReadPosRankSum
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SIO_000300: -1.4e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037298019681691e-5
allele num: 65848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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SIO_000300: 5.412e0

DP
type: SiteQuality
SIO_000300: 1.819601e6

ReadPosRankSum
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SIO_000300: -1.4e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

African
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Other
type: Population
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Latino
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allele count: 1
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.082044011588486e-5
allele num: 64892
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64782
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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MQ
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VQSLOD
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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African
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allele frequency: 1.096972356296621e-4
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European (Non-Finnish)
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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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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 57884
num of homozygotes: 0

African
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European (Finnish)
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Latino
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East Asian
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Other
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South Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.739311928201204e-5
allele num: 57494
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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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

Latino
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num of homozygotes: 0

South Asian
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African
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Other
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BaseQRankSum
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MQRankSum
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QD
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DP
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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QD
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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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East Asian
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Other
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South Asian
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Latino
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European (Non-Finnish)
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African
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MQ
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DP
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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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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bin: 4.75e1
variant carriers: 156

GenotypeQuality
all individuals: 2556
bin: 7.5e0
variant carriers: 51

GenotypeQuality
all individuals: 12014
bin: 9.75e1
variant carriers: 8201

GenotypeQuality
all individuals: 4640
bin: 1.75e1
variant carriers: 108

GenotypeQuality
all individuals: 6257
bin: 3.25e1
variant carriers: 106

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 251

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 257

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 157

GenotypeQuality
all individuals: 2026
bin: 4.25e1
variant carriers: 108

GenotypeQuality
all individuals: 898
bin: 5.75e1
variant carriers: 105

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 269

European (Non-Finnish)
type: Population
allele count: 3978
allele frequency: 8.108769211953198e-2
allele num: 49058
num of homozygotes: 169

East Asian
type: Population
allele count: 724
allele frequency: 1.333333333333333e-1
allele num: 5430
num of homozygotes: 45

African
type: Population
allele count: 1241
allele frequency: 1.561792096652404e-1
allele num: 7946
num of homozygotes: 108

Latino
type: Population
allele count: 665
allele frequency: 8.058652447891421e-2
allele num: 8252
num of homozygotes: 33

South Asian
type: Population
allele count: 2348
allele frequency: 1.750149075730471e-1
allele num: 13416
num of homozygotes: 227

Other
type: Population
allele count: 60
allele frequency: 8.021390374331551e-2
allele num: 748
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 454
allele frequency: 7.676699357456881e-2
allele num: 5914
num of homozygotes: 19

DP
type: SiteQuality
SIO_000300: 1.22017e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.585e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeDepth
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
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variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 1738
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.891165051608219e-5
allele num: 63362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.179245283018868e-3
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

DP
type: SiteQuality
SIO_000300: 1.337677e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 181
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
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variant carriers: 0

GenotypeDepth
all individuals: 2954
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variant carriers: 0

GenotypeDepth
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 34583
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 73
bin: 2.5e0
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GenotypeQuality
all individuals: 753
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 1

GenotypeQuality
all individuals: 1848
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 794
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variant carriers: 0

GenotypeQuality
all individuals: 1916
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
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variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.238137869292748e-4
allele num: 13404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.115770282588879e-5
allele num: 10970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-4
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577237311125832e-5
allele num: 63402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 1.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.346947e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeDepth
all individuals: 1398
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
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variant carriers: 0

GenotypeQuality
all individuals: 4097
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 2069
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variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 42775
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.558999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.417302e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.592e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.345e0

FS
type: SiteQuality
SIO_000300: 3.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeDepth
all individuals: 197
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
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variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 638
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 1760
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 813
bin: 7.25e1
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GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 30
allele frequency: 2.110892203771461e-3
allele num: 14212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.406e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 1.447142e6

GenotypeDepth
all individuals: 181
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3091
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
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GenotypeQuality
all individuals: 4238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
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variant carriers: 0

GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.005744710662743e-5
allele num: 14274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

DP
type: SiteQuality
SIO_000300: 1.452326e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQRankSum
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeDepth
all individuals: 2469
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3067
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 194
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GenotypeDepth
all individuals: 55
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GenotypeQuality
all individuals: 761
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variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 819
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
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GenotypeQuality
all individuals: 2405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
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GenotypeQuality
all individuals: 46486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.947040498442368e-4
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.457673e6

FS
type: SiteQuality
SIO_000300: 4.858e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.207e1

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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allele frequency: 0.0e0
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Latino
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.514233797698365e-5
allele num: 66040
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South Asian
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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FS
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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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South Asian
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allele frequency: 6.349206349206349e-5
allele num: 15750
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.497005988023952e-3
allele num: 11356
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East Asian
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allele count: 0
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African
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allele frequency: 4.218840300520131e-2
allele num: 10382
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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DP
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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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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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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66234
num of homozygotes: 0

Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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VQSLOD
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QD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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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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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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allele num: 66474
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European (Finnish)
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Other
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South Asian
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Latino
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African
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East Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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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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East Asian
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Latino
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European (Non-Finnish)
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African
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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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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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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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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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Other
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Latino
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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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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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DP
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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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 (Non-Finnish)
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allele num: 66618
num of homozygotes: 0

African
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European (Finnish)
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Latino
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Other
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South Asian
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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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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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