5-139943302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943302
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943302
    reference: chr 5
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.377G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.236G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+35G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-139943304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943304
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943304
    reference: chr 5
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.234A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.375A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+33A>G
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

5-139943311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943311
    reference: chr 5
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.368T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.227T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+26T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+26T>C
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-139943327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943327
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943327
    reference: chr 5
allele count: 10
allele frequency: 8.243751236562685e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.211G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.352G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+10G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+10G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

5-139943327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943327
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943327
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.352G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.211G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+10G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+10G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

5-139943329-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943329
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943330
    reference: chr 5
allele count: 114
allele frequency: 9.399116153288042e-4
allele num: 121288
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.208dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.349dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+7dupA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+7dupA
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213+7dupA
num of homozygotes: 1
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-139943331-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943331
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943332
    reference: chr 5
allele count: 9
allele frequency: 7.420110147412856e-5
allele num: 121292
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.347dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.206dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213+5dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357+5dupG
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213+5dupG
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-139943337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943337
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943337
    reference: chr 5
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.845G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-711G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.213G>C
  hgvsp: ENST00000354402.5:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.201G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.213G>C
  hgvsp: ENST00000511896.1:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.381G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.210G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.233G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.213G>C
  hgvsp: ENST00000467078.1:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.213G>C
  hgvsp: ENST00000509914.1:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.718G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.213G>C
  hgvsp: ENST00000511201.2:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.213G>C
  hgvsp: ENST00000412920.3:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.242G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.357G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.213G>C
  hgvsp: ENST00000356738.2:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.342G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.213G>C
  hgvsp: ENST00000357560.4:c.213G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.213G>C
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

5-139943338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943338
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943338
    reference: chr 5
allele count: 10
allele frequency: 8.243615319934711e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.212C>T
  hgvsp: ENSP00000427272.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.844C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.209C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.212C>T
  hgvsp: ENSP00000422718.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.380C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.341C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.232C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-712C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.200C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.212C>T
  hgvsp: ENSP00000349177.2:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.212C>T
  hgvsp: ENSP00000424317.2:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.212C>T
  hgvsp: ENSP00000402591.3:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.241C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.212C>T
  hgvsp: ENSP00000426107.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.717C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.356C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.212C>T
  hgvsp: ENSP00000350171.4:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.212C>T
  hgvsp: ENSP00000346378.5:p.Thr71Met
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr71Met
num of homozygotes: 1
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: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-139943340-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943340
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943340
    reference: chr 5
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.210C>G
  hgvsp: ENST00000356738.2:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.198C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-714C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.210C>G
  hgvsp: ENST00000467078.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.210C>G
  hgvsp: ENST00000412920.3:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.354C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.210C>G
  hgvsp: ENST00000357560.4:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.210C>G
  hgvsp: ENST00000354402.5:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.210C>G
  hgvsp: ENST00000509914.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.210C>G
  hgvsp: ENST00000511201.2:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.239C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.842C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.210C>G
  hgvsp: ENST00000511896.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.378C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.230C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.715C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.207C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.210C>G
  hgvsp: ENST00000358580.5:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.339C>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly70Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-139943352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943352
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943352
    reference: chr 5
allele count: 4
allele frequency: 3.297554863069035e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.198A>G
  hgvsp: ENST00000412920.3:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.198A>G
  hgvsp: ENST00000357560.4:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.198A>G
  hgvsp: ENST00000354402.5:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.227A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.342A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-726A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.198A>G
  hgvsp: ENST00000358580.5:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.327A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.198A>G
  hgvsp: ENST00000509914.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.198A>G
  hgvsp: ENST00000467078.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.198A>G
  hgvsp: ENST00000511201.2:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.198A>G
  hgvsp: ENST00000356738.2:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.186A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.218A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.366A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.830A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.198A>G
  hgvsp: ENST00000511896.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.703A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.195A>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala66Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

5-139943366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943366
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943366
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.689G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.181G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.184G>A
  hgvsp: ENSP00000422718.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.184G>A
  hgvsp: ENSP00000346378.5:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.204G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.352G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.184G>A
  hgvsp: ENSP00000402591.3:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.328G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.184G>A
  hgvsp: ENSP00000350171.4:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.184G>A
  hgvsp: ENSP00000426107.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.172G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.184G>A
  hgvsp: ENSP00000349177.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.213G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.184G>A
  hgvsp: ENSP00000424317.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.313G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-740G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.184G>A
  hgvsp: ENSP00000351389.5:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.184G>A
  hgvsp: ENSP00000427272.1:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.816G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu62Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

5-139943370-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943370
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943370
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.309C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.180C>G
  hgvsp: ENST00000354402.5:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.180C>G
  hgvsp: ENST00000357560.4:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-744C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.180C>G
  hgvsp: ENST00000412920.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.348C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.180C>G
  hgvsp: ENST00000467078.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.168C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.180C>G
  hgvsp: ENST00000509914.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.685C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.209C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.324C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.180C>G
  hgvsp: ENST00000511201.2:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.180C>G
  hgvsp: ENST00000511896.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.180C>G
  hgvsp: ENST00000358580.5:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.812C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.200C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.177C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.180C>G
  hgvsp: ENST00000356738.2:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr60Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-139943377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943377
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943377
    reference: chr 5
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.173G>T
  hgvsp: ENSP00000349177.2:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-751G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.173G>T
  hgvsp: ENSP00000422718.1:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.341G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.173G>T
  hgvsp: ENSP00000424317.2:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.173G>T
  hgvsp: ENSP00000346378.5:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.173G>T
  hgvsp: ENSP00000351389.5:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.173G>T
  hgvsp: ENSP00000350171.4:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.317G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.202G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.302G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.161G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.678G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.173G>T
  hgvsp: ENSP00000426107.1:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.170G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.173G>T
  hgvsp: ENSP00000402591.3:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.193G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.805G>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.173G>T
  hgvsp: ENSP00000427272.1:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg58Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-139943384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943384
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943384
    reference: chr 5
allele count: 3
allele frequency: 2.472880741204788e-5
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.166T>C
  hgvsp: ENSP00000402591.3:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.798T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.166T>C
  hgvsp: ENSP00000350171.4:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.163T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.166T>C
  hgvsp: ENSP00000426107.1:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-758T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.295T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.166T>C
  hgvsp: ENSP00000424317.2:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.671T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.166T>C
  hgvsp: ENSP00000351389.5:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.154T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.166T>C
  hgvsp: ENSP00000422718.1:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.166T>C
  hgvsp: ENSP00000346378.5:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.166T>C
  hgvsp: ENSP00000427272.1:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.166T>C
  hgvsp: ENSP00000349177.2:p.Trp56Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.186T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.334T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.310T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.195T>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp56Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-139943396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943396
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943396
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.154G>A
  hgvsp: ENSP00000422718.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.154G>A
  hgvsp: ENSP00000350171.4:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.786G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-770G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.154G>A
  hgvsp: ENSP00000349177.2:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.183G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.154G>A
  hgvsp: ENSP00000346378.5:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.154G>A
  hgvsp: ENSP00000427272.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.151G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.659G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.174G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.154G>A
  hgvsp: ENSP00000402591.3:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.142G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.154G>A
  hgvsp: ENSP00000424317.2:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.154G>A
  hgvsp: ENSP00000426107.1:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.154G>A
  hgvsp: ENSP00000351389.5:p.Gly52Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.298G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.322G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.283G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly52Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-139943404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943404
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943404
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.146T>C
  hgvsp: ENSP00000427272.1:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.275T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.134T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.146T>C
  hgvsp: ENSP00000426107.1:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.651T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-778T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.290T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.146T>C
  hgvsp: ENSP00000349177.2:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.146T>C
  hgvsp: ENSP00000350171.4:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.175T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.146T>C
  hgvsp: ENSP00000424317.2:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.146T>C
  hgvsp: ENSP00000351389.5:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.166T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.146T>C
  hgvsp: ENSP00000402591.3:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.146T>C
  hgvsp: ENSP00000422718.1:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.314T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.143T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.778T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.146T>C
  hgvsp: ENSP00000346378.5:p.Val49Ala
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val49Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-139943406-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943406
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943406
    reference: chr 5
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.144T>G
  hgvsp: ENSP00000424317.2:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.144T>G
  hgvsp: ENSP00000427272.1:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.144T>G
  hgvsp: ENSP00000350171.4:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-780T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.173T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.144T>G
  hgvsp: ENSP00000422718.1:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.144T>G
  hgvsp: ENSP00000346378.5:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.288T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.776T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.312T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.649T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.144T>G
  hgvsp: ENSP00000426107.1:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.144T>G
  hgvsp: ENSP00000402591.3:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.273T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.144T>G
  hgvsp: ENSP00000349177.2:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.144T>G
  hgvsp: ENSP00000351389.5:p.His48Gln
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.164T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.132T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.141T>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His48Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

5-139943412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943412
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943412
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.138C>T
  hgvsp: ENST00000511201.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.643C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.138C>T
  hgvsp: ENST00000509914.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.138C>T
  hgvsp: ENST00000356738.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.138C>T
  hgvsp: ENST00000412920.3:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.770C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.282C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.306C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.167C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.135C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.138C>T
  hgvsp: ENST00000357560.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.158C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-786C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.138C>T
  hgvsp: ENST00000467078.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.138C>T
  hgvsp: ENST00000354402.5:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.126C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.138C>T
  hgvsp: ENST00000358580.5:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.138C>T
  hgvsp: ENST00000511896.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.267C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr46Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-139943418-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943418
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943418
    reference: chr 5
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.637T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.152T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-792T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.120T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.132T>A
  hgvsp: ENST00000412920.3:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.276T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.161T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.132T>A
  hgvsp: ENST00000511896.1:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.129T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.132T>A
  hgvsp: ENST00000354402.5:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.300T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.132T>A
  hgvsp: ENST00000511201.2:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.132T>A
  hgvsp: ENST00000358580.5:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.132T>A
  hgvsp: ENST00000356738.2:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.132T>A
  hgvsp: ENST00000509914.1:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.132T>A
  hgvsp: ENST00000467078.1:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.764T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.261T>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.132T>A
  hgvsp: ENST00000357560.4:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr44Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-139943427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943427
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943427
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.123T>C
  hgvsp: ENST00000467078.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-801T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.628T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.123T>C
  hgvsp: ENST00000356738.2:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.123T>C
  hgvsp: ENST00000412920.3:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.143T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.291T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.123T>C
  hgvsp: ENST00000511201.2:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.267T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.123T>C
  hgvsp: ENST00000358580.5:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.123T>C
  hgvsp: ENST00000511896.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.152T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.123T>C
  hgvsp: ENST00000357560.4:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.252T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.120T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.123T>C
  hgvsp: ENST00000354402.5:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.123T>C
  hgvsp: ENST00000509914.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.755T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.111T>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala41Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-139943430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943430
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943430
    reference: chr 5
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.120T>C
  hgvsp: ENST00000412920.3:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.249T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.264T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.149T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.108T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-804T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.120T>C
  hgvsp: ENST00000354402.5:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.120T>C
  hgvsp: ENST00000467078.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.120T>C
  hgvsp: ENST00000511201.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.120T>C
  hgvsp: ENST00000356738.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.120T>C
  hgvsp: ENST00000357560.4:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.752T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.120T>C
  hgvsp: ENST00000358580.5:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.120T>C
  hgvsp: ENST00000511896.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.625T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.120T>C
  hgvsp: ENST00000509914.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.140T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.117T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.288T>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp40Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

5-139943433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943433
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943433
    reference: chr 5
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.622C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.117C>T
  hgvsp: ENST00000467078.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.117C>T
  hgvsp: ENST00000354402.5:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.285C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.146C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.105C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.117C>T
  hgvsp: ENST00000509914.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.261C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.117C>T
  hgvsp: ENST00000412920.3:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.117C>T
  hgvsp: ENST00000358580.5:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-807C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.117C>T
  hgvsp: ENST00000356738.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.117C>T
  hgvsp: ENST00000511896.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.117C>T
  hgvsp: ENST00000357560.4:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.117C>T
  hgvsp: ENST00000511201.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.114C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.246C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.749C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.137C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His39His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-139943442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943442
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943442
    reference: chr 5
allele count: 9
allele frequency: 7.421823459559309e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.108G>A
  hgvsp: ENST00000356738.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.237G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.108G>A
  hgvsp: ENST00000357560.4:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.96G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.108G>A
  hgvsp: ENST00000354402.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.108G>A
  hgvsp: ENST00000358580.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.128G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.276G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-816G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.108G>A
  hgvsp: ENST00000511201.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.613G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.137G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.108G>A
  hgvsp: ENST00000511896.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.108G>A
  hgvsp: ENST00000412920.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.108G>A
  hgvsp: ENST00000467078.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.105G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.108G>A
  hgvsp: ENST00000509914.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.252G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.740G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg36Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-139943455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943455
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943455
    reference: chr 5
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.95C>T
  hgvsp: ENSP00000351389.5:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.95C>T
  hgvsp: ENSP00000426107.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.124C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.92C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.95C>T
  hgvsp: ENSP00000349177.2:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.115C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-829C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.95C>T
  hgvsp: ENSP00000427272.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.83C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.95C>T
  hgvsp: ENSP00000402591.3:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.239C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.600C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.263C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.95C>T
  hgvsp: ENSP00000424317.2:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.727C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.95C>T
  hgvsp: ENSP00000350171.4:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.95C>T
  hgvsp: ENSP00000346378.5:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.95C>T
  hgvsp: ENSP00000422718.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.224C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro32Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-139943456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943456
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943456
    reference: chr 5
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.726C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.123C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.94C>T
  hgvsp: ENSP00000402591.3:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.223C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-830C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.94C>T
  hgvsp: ENSP00000346378.5:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.94C>T
  hgvsp: ENSP00000424317.2:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.238C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.94C>T
  hgvsp: ENSP00000422718.1:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.114C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.94C>T
  hgvsp: ENSP00000350171.4:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.94C>T
  hgvsp: ENSP00000351389.5:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.82C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.262C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.94C>T
  hgvsp: ENSP00000349177.2:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.94C>T
  hgvsp: ENSP00000426107.1:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.94C>T
  hgvsp: ENSP00000427272.1:p.Pro32Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.599C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.91C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro32Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-139943466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943466
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943466
    reference: chr 5
allele count: 11
allele frequency: 9.081152480805745e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.84G>A
  hgvsp: ENST00000511201.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.84G>A
  hgvsp: ENST00000357560.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.716G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.104G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.84G>A
  hgvsp: ENST00000511896.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-840G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.84G>A
  hgvsp: ENST00000412920.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.84G>A
  hgvsp: ENST00000509914.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.228G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.113G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.213G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.84G>A
  hgvsp: ENST00000354402.5:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.252G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.84G>A
  hgvsp: ENST00000358580.5:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.84G>A
  hgvsp: ENST00000467078.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.72G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.84G>A
  hgvsp: ENST00000356738.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.81G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.589G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu28Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

5-139943469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943469
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943469
    reference: chr 5
allele count: 2
allele frequency: 1.651582215762701e-5
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.81G>A
  hgvsp: ENST00000358580.5:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.225G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.81G>A
  hgvsp: ENST00000467078.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.81G>A
  hgvsp: ENST00000511201.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.81G>A
  hgvsp: ENST00000412920.3:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.81G>A
  hgvsp: ENST00000511896.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.110G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.81G>A
  hgvsp: ENST00000354402.5:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.81G>A
  hgvsp: ENST00000509914.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.81G>A
  hgvsp: ENST00000357560.4:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.101G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.81G>A
  hgvsp: ENST00000356738.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.249G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.69G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.586G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.210G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.713G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.78G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-843G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val27Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-139943474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943474
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943474
    reference: chr 5
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.105G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.76G>A
  hgvsp: ENSP00000427272.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.205G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.76G>A
  hgvsp: ENSP00000402591.3:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.76G>A
  hgvsp: ENSP00000351389.5:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.64G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.220G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.76G>A
  hgvsp: ENSP00000346378.5:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.244G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.708G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.581G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.76G>A
  hgvsp: ENSP00000349177.2:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-848G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.73G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.76G>A
  hgvsp: ENSP00000422718.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.76G>A
  hgvsp: ENSP00000424317.2:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.76G>A
  hgvsp: ENSP00000426107.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.96G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.76G>A
  hgvsp: ENSP00000350171.4:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu26Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

5-139943487-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943487
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943487
    reference: chr 5
allele count: 518
allele frequency: 4.289002599897329e-3
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.546G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.63G>C
  hgvsp: ENST00000467078.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.63G>C
  hgvsp: ENST00000412920.3:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.63G>C
  hgvsp: ENST00000354402.5:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.192G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.63G>C
  hgvsp: ENST00000511201.2:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.63G>C
  hgvsp: ENST00000356738.2:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.568G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.695G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.63G>C
  hgvsp: ENST00000358580.5:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.63G>C
  hgvsp: ENST00000357560.4:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.63G>C
  hgvsp: ENST00000509914.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.63G>C
  hgvsp: ENST00000511896.1:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.231G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.51G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.60G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.83G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.207G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-861G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.92G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly21Gly
num of homozygotes: 14
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-139943489-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943489
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943489
    reference: chr 5
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.58G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.544G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.90G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.61G>C
  hgvsp: ENSP00000402591.3:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.61G>C
  hgvsp: ENSP00000346378.5:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.81G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.61G>C
  hgvsp: ENSP00000426107.1:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.61G>C
  hgvsp: ENSP00000349177.2:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.61G>C
  hgvsp: ENSP00000422718.1:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.61G>C
  hgvsp: ENSP00000351389.5:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.566G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-863G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.61G>C
  hgvsp: ENSP00000427272.1:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.693G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.49G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.190G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.61G>C
  hgvsp: ENSP00000350171.4:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.61G>C
  hgvsp: ENSP00000424317.2:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.229G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.205G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly21Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-139943490-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943490
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943490
    reference: chr 5
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.60G>C
  hgvsp: ENSP00000427272.1:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.228G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.60G>C
  hgvsp: ENSP00000402591.3:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.204G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.60G>C
  hgvsp: ENSP00000346378.5:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.60G>C
  hgvsp: ENSP00000349177.2:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.60G>C
  hgvsp: ENSP00000424317.2:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.565G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.60G>C
  hgvsp: ENSP00000426107.1:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.57G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.60G>C
  hgvsp: ENSP00000351389.5:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.48G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.60G>C
  hgvsp: ENSP00000350171.4:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.189G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.60G>C
  hgvsp: ENSP00000422718.1:p.Trp20Cys
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.692G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.89G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-864G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.543G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.80G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp20Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-139943491-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943491
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943491
    reference: chr 5
allele count: 3
allele frequency: 2.486283999933699e-5
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.59G>C
  hgvsp: ENSP00000349177.2:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-865G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.56G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.59G>C
  hgvsp: ENSP00000422718.1:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.188G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.203G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.59G>C
  hgvsp: ENSP00000427272.1:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.564G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.59G>C
  hgvsp: ENSP00000351389.5:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.79G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.59G>C
  hgvsp: ENSP00000346378.5:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.59G>C
  hgvsp: ENSP00000402591.3:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.59G>C
  hgvsp: ENSP00000350171.4:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.227G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.59G>C
  hgvsp: ENSP00000426107.1:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.542G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.691G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.59G>C
  hgvsp: ENSP00000424317.2:p.Trp20Ser
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.88G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.47G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp20Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-139943491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943491
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943491
    reference: chr 5
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.59G>A
  hgvsp: ENSP00000346378.5:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.59G>A
  hgvsp: ENSP00000350171.4:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.227G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.59G>A
  hgvsp: ENSP00000426107.1:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.203G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-865G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.59G>A
  hgvsp: ENSP00000351389.5:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.59G>A
  hgvsp: ENSP00000349177.2:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.56G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.59G>A
  hgvsp: ENSP00000427272.1:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.47G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.59G>A
  hgvsp: ENSP00000422718.1:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.691G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.564G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.542G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.79G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.188G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.88G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.59G>A
  hgvsp: ENSP00000402591.3:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.59G>A
  hgvsp: ENSP00000424317.2:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp20Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

5-139943493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943493
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943493
    reference: chr 5
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.186G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.540G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-867G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.689G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.57G>A
  hgvsp: ENST00000354402.5:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.57G>A
  hgvsp: ENST00000356738.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.57G>A
  hgvsp: ENST00000357560.4:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.57G>A
  hgvsp: ENST00000509914.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.45G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.57G>A
  hgvsp: ENST00000467078.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.57G>A
  hgvsp: ENST00000511896.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.54G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.57G>A
  hgvsp: ENST00000358580.5:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.562G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.57G>A
  hgvsp: ENST00000511201.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.225G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.77G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.57G>A
  hgvsp: ENST00000412920.3:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.86G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.201G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu19Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

5-139943512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943512
    reference: chr 5
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.79-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.543G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-874-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.194-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.670G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.179-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.50-12G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-139943520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943520
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943520
    reference: chr 5
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.179-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.79-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.194-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.662C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.535C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.50-20C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-874-20C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-139943532-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943530
    reference: chr 5
allele count: 192
allele frequency: 1.622306717363752e-3
allele num: 118350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.179-34_179-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.79-34_79-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-34_47-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-34_38-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.648_649delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.521_522delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.194-34_194-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-34_533-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-874-34_-874-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-34_218-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.50-34_50-33delAT
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-34_70-33delAT
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: CAT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-139943540-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943540
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943538
    reference: chr 5
allele count: 2
allele frequency: 1.696381618008787e-5
allele num: 117898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.179-42_179-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.79-42_79-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-874-42_-874-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-42_38-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-42_47-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-42_70-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.640_641delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-42_533-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.513_514delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.194-42_194-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.50-42_50-41delCA
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-42_218-41delCA
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TTG
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-139943546-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943546
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943546
    reference: chr 5
allele count: 4
allele frequency: 3.413901406527379e-5
allele num: 117168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.79-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.636C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.194-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-874-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.509C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.179-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.50-46C>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-46C>G
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

5-139943734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943734
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943734
    reference: chr 5
allele count: 2
allele frequency: 1.687963134885134e-5
allele num: 118486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-234G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.321G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-234G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.448G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-234G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-234G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-234G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+48G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+48G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-139943743-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943743
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943743
    reference: chr 5
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.312A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.439A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-243A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-243A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-243A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-243A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+39A>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-243A>C
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

5-139943747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943747
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943747
    reference: chr 5
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-247G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-247G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.435G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.308G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-247G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-247G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-247G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+35G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+35G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

5-139943766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943766
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943766
    reference: chr 5
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-266C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.289C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-266C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.416C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-266C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-266C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-266C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+16C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+16C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-139943766-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943766
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943767
    reference: chr 5
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.288dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-267dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-267dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-267dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.415dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-267dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-267dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+15dupG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+15dupG
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-139943770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943770
    reference: chr 5
allele count: 19
allele frequency: 1.585420804058677e-4
allele num: 119842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.285G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-270G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-270G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.412G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-270G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-270G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+12G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-270G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-139943774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943774
    reference: chr 5
allele count: 2
allele frequency: 1.66786196774355e-5
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-274C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-274C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.281C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+8C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.408C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-274C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-274C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.49+8C>T
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-139943775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943775
    reference: chr 5
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-275A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-275A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-275A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.280A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-275A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-275A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.407A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+7A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+7A>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.49+7A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-139943778-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943778
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943778
    reference: chr 5
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-278T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-278T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.404T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-278T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-278T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.277T>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+4T>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.49+4T>G
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

5-139943781-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943781
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943781
    reference: chr 5
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-281G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-875+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.193+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.178+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-281G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.274G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.78+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.401G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-281G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.49+1G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-281G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-281G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.49+1G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-139943784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943784
    reference: chr 5
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-877A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.47A>G
  hgvsp: ENSP00000349177.2:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.47A>G
  hgvsp: ENSP00000402591.3:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.47A>G
  hgvsp: ENSP00000351389.5:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-284A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.398A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.47A>G
  hgvsp: ENSP00000426107.1:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.47A>G
  hgvsp: ENSP00000427272.1:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-284A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-284A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.47A>G
  hgvsp: ENSP00000424317.2:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.47A>G
  hgvsp: ENSP00000346378.5:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.176A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.271A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-284A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.76A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.47A>G
  hgvsp: ENSP00000350171.4:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-284A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.47A>G
  hgvsp: ENSP00000422718.1:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp16Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-139943796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943796
    reference: chr 5
allele count: 2
allele frequency: 1.666416704161042e-5
allele num: 120018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.35T>C
  hgvsp: ENSP00000424317.2:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-296T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.35T>C
  hgvsp: ENSP00000426107.1:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.35T>C
  hgvsp: ENSP00000346378.5:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-889T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.35T>C
  hgvsp: ENSP00000402591.3:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.35T>C
  hgvsp: ENSP00000351389.5:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.164T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-296T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.35T>C
  hgvsp: ENSP00000350171.4:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-296T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.35T>C
  hgvsp: ENSP00000349177.2:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-296T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.259T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.35T>C
  hgvsp: ENSP00000427272.1:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.35T>C
  hgvsp: ENSP00000422718.1:p.Leu12Pro
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.386T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.64T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.179T>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-296T>C
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu12Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

5-139943801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943801
    reference: chr 5
allele count: 2
allele frequency: 1.66730580055688e-5
allele num: 119954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.30C>T
  hgvsp: ENST00000354402.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.30C>T
  hgvsp: ENST00000358580.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.174C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.30C>T
  hgvsp: ENST00000467078.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.30C>T
  hgvsp: ENST00000511201.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.30C>T
  hgvsp: ENST00000412920.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.30C>T
  hgvsp: ENST00000509914.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.30C>T
  hgvsp: ENST00000356738.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.381C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-301C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.59C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.254C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.30C>T
  hgvsp: ENST00000511896.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.30C>T
  hgvsp: ENST00000357560.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-301C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-301C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.159C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-894C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-301C>T
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-301C>T
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile10Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-139943804-GGCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943804
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943800
    reference: chr 5
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.23_26delTGGC
  hgvsp: ENSP00000424317.2:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.23_26delTGGC
  hgvsp: ENSP00000426107.1:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-308_70-305delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-308_38-305delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.52_55delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.23_26delTGGC
  hgvsp: ENSP00000346378.5:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-901_-898delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-308_533-305delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.23_26delTGGC
  hgvsp: ENSP00000422718.1:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-308_47-305delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.23_26delTGGC
  hgvsp: ENSP00000350171.4:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.23_26delTGGC
  hgvsp: ENSP00000402591.3:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.23_26delTGGC
  hgvsp: ENSP00000427272.1:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.23_26delTGGC
  hgvsp: ENSP00000351389.5:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.247_250delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.152_155delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.167_170delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-308_218-305delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.374_377delTGGC
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.23_26delTGGC
  hgvsp: ENSP00000349177.2:p.Leu8ProfsTer55
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu8ProfsTer55
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: GGCCA
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

5-139943807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943807
    reference: chr 5
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.24G>A
  hgvsp: ENST00000511201.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.248G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.24G>A
  hgvsp: ENST00000412920.3:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-307G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.24G>A
  hgvsp: ENST00000511896.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-307G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.375G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-900G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.24G>A
  hgvsp: ENST00000354402.5:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.24G>A
  hgvsp: ENST00000356738.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-307G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.24G>A
  hgvsp: ENST00000509914.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.168G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.24G>A
  hgvsp: ENST00000467078.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.153G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.24G>A
  hgvsp: ENST00000357560.4:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.53G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-307G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.24G>A
  hgvsp: ENST00000358580.5:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-307G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu8Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-139943812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943812
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943812
    reference: chr 5
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.48A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.163A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.19A>G
  hgvsp: ENSP00000402591.3:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-312A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-312A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.19A>G
  hgvsp: ENSP00000427272.1:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.19A>G
  hgvsp: ENSP00000350171.4:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.19A>G
  hgvsp: ENSP00000349177.2:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.148A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.19A>G
  hgvsp: ENSP00000426107.1:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.19A>G
  hgvsp: ENSP00000424317.2:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.19A>G
  hgvsp: ENSP00000351389.5:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.19A>G
  hgvsp: ENSP00000422718.1:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.19A>G
  hgvsp: ENSP00000346378.5:p.Met7Val
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-905A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-312A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.243A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-312A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.370A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-312A>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met7Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

5-139943820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943820
    reference: chr 5
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.11A>G
  hgvsp: ENSP00000426107.1:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-320A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000422718
  ensembl transcript: ENST00000467078
  gene symbol: APBB3
  hgvsc: ENST00000467078.1:c.11A>G
  hgvsp: ENSP00000422718.1:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.362A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-913A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.140A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.11A>G
  hgvsp: ENSP00000351389.5:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000402591
  ensembl transcript: ENST00000412920
  gene symbol: APBB3
  hgvsc: ENST00000412920.3:c.11A>G
  hgvsp: ENSP00000402591.3:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.11A>G
  hgvsp: ENSP00000427272.1:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-320A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.235A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.11A>G
  hgvsp: ENSP00000346378.5:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000424317
  ensembl transcript: ENST00000511201
  gene symbol: APBB3
  hgvsc: ENST00000511201.2:c.11A>G
  hgvsp: ENSP00000424317.2:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-320A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.11A>G
  hgvsp: ENSP00000350171.4:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.40A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.155A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.11A>G
  hgvsp: ENSP00000349177.2:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-320A>G
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-320A>G
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys4Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/5-139943832-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943832
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943831
    reference: chr 5
allele count: 1
allele frequency: 8.536210605388056e-6
allele num: 117148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.222delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-926delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-333delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-333delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-333delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.27delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-333delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.127delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.142delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.349delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-333delG
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.-3delG
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

5-139943837-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943837
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943837
    reference: chr 5
allele count: 2
allele frequency: 1.710834716258062e-5
allele num: 116902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.345C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-337C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000346378
  ensembl transcript: ENST00000354402
  gene symbol: APBB3
  hgvsc: ENST00000354402.5:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-930C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.23C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.218C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.138C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-337C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-337C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000349177
  ensembl transcript: ENST00000356738
  gene symbol: APBB3
  hgvsc: ENST00000356738.2:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.-7C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.123C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-337C>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-337C>A
  variant of: http://identifiers.org/hgnc/20708
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-139943847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943847
    reference: chr 5
allele count: 1
allele frequency: 8.607926178425094e-6
allele num: 116172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.13G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-347G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.113G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.208G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.-17G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-347G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-347G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.-17G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.-17G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.128G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.-17G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-940G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-347G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-347G>C
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.335G>C
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-139943847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139943847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139943847
    reference: chr 5
allele count: 1
allele frequency: 8.607926178425094e-6
allele num: 116172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000510241
  gene symbol: APBB3
  hgvsc: ENST00000510241.1:n.335G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506165
  gene symbol: APBB3
  hgvsc: ENST00000506165.1:n.113G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506289
  gene symbol: APBB3
  hgvsc: ENST00000506289.1:n.47-347G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000503850
  gene symbol: APBB3
  hgvsc: ENST00000503850.1:n.128G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000505617
  gene symbol: APBB3
  hgvsc: ENST00000505617.1:n.70-347G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513507
  gene symbol: APBB3
  hgvsc: ENST00000513507.1:n.13G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000427272
  ensembl transcript: ENST00000511896
  gene symbol: APBB3
  hgvsc: ENST00000511896.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000444013
  ensembl transcript: ENST00000508496
  gene symbol: APBB3
  hgvsc: ENST00000508496.2:c.-940G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000507279
  gene symbol: APBB3
  hgvsc: ENST00000507279.1:n.218-347G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000511459
  gene symbol: APBB3
  hgvsc: ENST00000511459.1:n.38-347G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000513766
  gene symbol: APBB3
  hgvsc: ENST00000513766.2:n.533-347G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000426107
  ensembl transcript: ENST00000509914
  gene symbol: APBB3
  hgvsc: ENST00000509914.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000350171
  ensembl transcript: ENST00000357560
  gene symbol: APBB3
  hgvsc: ENST00000357560.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113108
  ensembl transcript: ENST00000506958
  gene symbol: APBB3
  hgvsc: ENST00000506958.1:n.208G>A
  variant of: http://identifiers.org/hgnc/20708
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000113108
  ensembl protein: ENSP00000351389
  ensembl transcript: ENST00000358580
  gene symbol: APBB3
  hgvsc: ENST00000358580.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/20708
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 191
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1020
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11734
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1885
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3704
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12621
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27221
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.526e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.476e0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.755835e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12669
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 611
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11712
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3697
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1882
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27260
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8742
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.756113e6

QD
type: SiteQuality
SIO_000300: 1.26e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.169e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

GenotypeDepth
all individuals: 27336
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11687
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

VQSLOD
type: SiteQuality
SIO_000300: -1.976e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 8.63e-1

QD
type: SiteQuality
SIO_000300: 2.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

DP
type: SiteQuality
SIO_000300: 1.756627e6

GenotypeDepth
all individuals: 1012
bin: 4.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 238
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12837
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 191
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27521
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1858
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 445
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11670
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349527665317139e-4
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.757545e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeDepth
all individuals: 238
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11670
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12837
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1858
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27521
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3646
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

DP
type: SiteQuality
SIO_000300: 1.757545e6

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeDepth
all individuals: 564
bin: 5.25e1
variant carriers: 22

GenotypeDepth
all individuals: 335
bin: 5.75e1
variant carriers: 7

GenotypeDepth
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3642
bin: 3.75e1
variant carriers: 13

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

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 12

GenotypeDepth
all individuals: 428
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 6.25e1
variant carriers: 7

GenotypeDepth
all individuals: 1857
bin: 4.25e1
variant carriers: 9

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12854
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 32
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 11647
bin: 3.25e1
variant carriers: 15

GenotypeDepth
all individuals: 66
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27531
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 9.75e1
variant carriers: 113

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 68
allele frequency: 4.121212121212121e-3
allele num: 16500
num of homozygotes: 1

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.548723793527488e-4
allele num: 66682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

QD
type: SiteQuality
SIO_000300: 1.504e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.758801e6

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3630
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27599
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12856
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1001
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 543
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 45
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11655
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199652100890742e-4
allele num: 66686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.385e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.756431e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000113108
ensembl protein: ENSP00000351389
ensembl transcript: ENST00000358580
gene symbol: APBB3
hgvsc: ENST00000358580.5:c.213G>C
hgvsp: ENST00000358580.5:c.213G>C(p.%3D)
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 1846
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27660
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 350
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11674
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 329
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12895
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3626
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 3.093e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.138e1

DP
type: SiteQuality
SIO_000300: 1.756994e6

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000113108
ensembl protein: ENSP00000351389
ensembl transcript: ENST00000358580
gene symbol: APBB3
hgvsc: ENST00000358580.5:c.212C>T
hgvsp: ENSP00000351389.5:p.Thr71Met
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1845
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3620
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27703
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12906
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 997
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 343
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11637
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36731
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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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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South Asian
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allele count: 0
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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MQRankSum
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SIO_000300: -8.55e-1

FS
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VQSLOD
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GenotypeDepth
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variant carriers: 29

GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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allele frequency: 4.599807135969142e-2
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Latino
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allele count: 34
allele frequency: 2.944742768058202e-3
allele num: 11546
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European (Finnish)
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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 count: 3
allele frequency: 4.512363877023043e-5
allele num: 66484
num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: 1.57e-1

InbreedingCoeff
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SIO_000300: 4.83e-2

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 5.2e-1

MQRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.79e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
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allele count: 0
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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num of homozygotes: 0

Other
type: Population
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
allele num: 66460
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -8.0e-3

FS
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BaseQRankSum
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QD
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SIO_000300: 1.184e1

ClippingRankSum
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SIO_000300: 2.36e0

DP
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VQSLOD
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MQ
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SIO_000300: 5.833e1

ReadPosRankSum
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SIO_000300: -2.558e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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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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African
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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DP
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QD
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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DP
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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South Asian
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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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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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MQ
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VQSLOD
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DP
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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MQRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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VQSLOD
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QD
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FS
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MQ
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DP
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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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VQSLOD
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African
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DP
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MQ
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African
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Latino
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East Asian
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European (Non-Finnish)
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DP
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MQ
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East Asian
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European (Non-Finnish)
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GenotypeQuality
all individuals: 2732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.670077e6

FS
type: SiteQuality
SIO_000300: 3.617e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeDepth
all individuals: 1876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20570
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9412
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3443
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20972
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.670077e6

FS
type: SiteQuality
SIO_000300: 3.617e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeDepth
all individuals: 20758
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3441
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9419
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 301
bin: 5.75e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 750
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21129
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 243
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1878
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 174
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 37
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.750972762645914e-3
allele num: 10280
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.674527e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000113108
ensembl transcript: ENST00000506289
gene symbol: APBB3
hgvsc: ENST00000506289.1:n.47-274C>T
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 9439
bin: 3.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1015
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20807
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21289
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016045361322234e-5
allele num: 66312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

DP
type: SiteQuality
SIO_000300: 1.67702e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.871e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000113108
ensembl protein: ENSP00000351389
ensembl transcript: ENST00000358580
gene symbol: APBB3
hgvsc: ENST00000358580.5:c.49+7A>G
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 707
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21307
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1877
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20840
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9427
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

DP
type: SiteQuality
SIO_000300: 1.677253e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -1.634e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000113108
ensembl transcript: ENST00000507279
gene symbol: APBB3
hgvsc: ENST00000507279.1:n.218-278T>G
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21381
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 540
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 603
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20831
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9420
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1877
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38917
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8585
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

VQSLOD
type: SiteQuality
SIO_000300: -2.042e-1

FS
type: SiteQuality
SIO_000300: 1.471e0

DP
type: SiteQuality
SIO_000300: 1.678183e6

GenotypeDepth
all individuals: 1876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21425
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9426
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20851
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.679223e6

VQSLOD
type: SiteQuality
SIO_000300: -5.796e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.823e0

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.563e0

FS
type: SiteQuality
SIO_000300: 5.069e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000113108
ensembl transcript: ENST00000503850
gene symbol: APBB3
hgvsc: ENST00000503850.1:n.191A>G
variant of: http://identifiers.org/hgnc/20708

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 554
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21465
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 661
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20840
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1876
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9428
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

MQRankSum
type: SiteQuality
SIO_000300: -1.251e0

QD
type: SiteQuality
SIO_000300: 1.029e1

DP
type: SiteQuality
SIO_000300: 1.679691e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1875
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21600
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20606
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017865765330758e-5
allele num: 66272
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

DP
type: SiteQuality
SIO_000300: 1.679272e6

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 6.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1875
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21595
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1015
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3421
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9417
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20429
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019050206804939e-5
allele num: 66246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.642e0

FS
type: SiteQuality
SIO_000300: 2.037e0

DP
type: SiteQuality
SIO_000300: 1.677617e6

QD
type: SiteQuality
SIO_000300: 1.356e1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

GenotypeDepth
all individuals: 1875
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21563
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9403
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Other
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South Asian
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VQSLOD
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MQRankSum
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FS
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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DP
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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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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Other
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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQ
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QD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
all individuals: 746
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1276
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.100582909587002e-5
allele num: 64504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

DP
type: SiteQuality
SIO_000300: 1.588401e6

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3037
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560890331845285e-5
allele num: 64066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 2.519e0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.569356e6

GenotypeDepth
all individuals: 1655
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 895
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5125
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20108
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 9.25e1
variant carriers: 0