19-41096958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096958
    reference: chr 19
allele count: 3
allele frequency: 2.556062981391861e-5
allele num: 117368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.634C>T
  hgvsp: ENSP00000471173.1:p.Arg212Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.1996C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.339C>T
  hgvsp: ENSP00000470505.1:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.597C>T
  hgvsp: ENSP00000469713.1:p.Arg200Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.372C>T
  hgvsp: ENSP00000471296.1:p.Arg125Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1969C>T
  hgvsp: ENSP00000291842.4:p.Arg657Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.276C>T
  hgvsp: ENSP00000471845.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1726C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.679C>T
  hgvsp: ENSP00000471408.1:p.Arg227Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1677C>T
  hgvsp: ENSP00000471406.1:p.Arg560Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.415C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1894C>T
  hgvsp: ENSP00000472711.1:p.Arg632Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.770C>T
  hgvsp: ENSP00000470517.1:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg657Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-41096961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096961
    reference: chr 19
allele count: 13
allele frequency: 1.109593717992489e-4
allele num: 117160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1729C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.773C>T
  hgvsp: ENSP00000470517.1:p.Arg259Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.682C>T
  hgvsp: ENSP00000471408.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1972C>T
  hgvsp: ENSP00000291842.4:p.Arg658Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.1999C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.600C>T
  hgvsp: ENSP00000469713.1:p.Arg201Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.375C>T
  hgvsp: ENSP00000471296.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1897C>T
  hgvsp: ENSP00000472711.1:p.Arg633Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1680C>T
  hgvsp: ENSP00000471406.1:p.Arg561Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.637C>T
  hgvsp: ENSP00000471173.1:p.Arg213Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.342C>T
  hgvsp: ENSP00000470505.1:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.418C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.279C>T
  hgvsp: ENSP00000471845.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg658Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

19-41096961-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096960
    reference: chr 19
allele count: 4
allele frequency: 3.414134516899966e-5
allele num: 117160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.638delG
  hgvsp: ENSP00000471173.1:p.Arg213LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1973delG
  hgvsp: ENSP00000291842.4:p.Arg658LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.774delG
  hgvsp: ENSP00000470517.1:p.Arg259LeufsTer?
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.376delG
  hgvsp: ENSP00000471296.1:p.Arg126LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.683delG
  hgvsp: ENSP00000471408.1:p.Arg228LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.343delG
  hgvsp: ENSP00000470505.1:p.Arg115LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*156delG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1681delG
  hgvsp: ENSP00000471406.1:p.Arg561LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.419delG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.280delG
  hgvsp: ENSP00000471845.1:p.Arg94LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.601delG
  hgvsp: ENSP00000469713.1:p.Arg201LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1898delG
  hgvsp: ENSP00000472711.1:p.Arg633LeufsTer43
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1730delG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2000delG
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24141
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg658LeufsTer43
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: CG
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-41096962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096962
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096962
    reference: chr 19
allele count: 22
allele frequency: 1.879185458521252e-4
allele num: 117072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.638G>A
  hgvsp: ENSP00000471173.1:p.Arg213His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1898G>A
  hgvsp: ENSP00000472711.1:p.Arg633His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.683G>A
  hgvsp: ENSP00000471408.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.376G>A
  hgvsp: ENSP00000471296.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1973G>A
  hgvsp: ENSP00000291842.4:p.Arg658His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1681G>A
  hgvsp: ENSP00000471406.1:p.Arg561His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.419G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.343G>A
  hgvsp: ENSP00000470505.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2000G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1730G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.280G>A
  hgvsp: ENSP00000471845.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.774G>A
  hgvsp: ENSP00000470517.1:p.Arg259His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.601G>A
  hgvsp: ENSP00000469713.1:p.Arg201His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg658His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-41096962-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096962
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096962
    reference: chr 19
allele count: 1
allele frequency: 8.541752084187508e-6
allele num: 117072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*156G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1681G>T
  hgvsp: ENSP00000471406.1:p.Arg561Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.343G>T
  hgvsp: ENSP00000470505.1:p.Arg115Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.376G>T
  hgvsp: ENSP00000471296.1:p.Arg126Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.683G>T
  hgvsp: ENSP00000471408.1:p.Arg228Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1730G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1898G>T
  hgvsp: ENSP00000472711.1:p.Arg633Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.774G>T
  hgvsp: ENSP00000470517.1:p.Arg259Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2000G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.419G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.601G>T
  hgvsp: ENSP00000469713.1:p.Arg201Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.280G>T
  hgvsp: ENSP00000471845.1:p.Arg94Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.638G>T
  hgvsp: ENSP00000471173.1:p.Arg213Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1973G>T
  hgvsp: ENSP00000291842.4:p.Arg658Leu
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg658Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-41096964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096964
    reference: chr 19
allele count: 1
allele frequency: 8.547446877617655e-6
allele num: 116994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1683G>A
  hgvsp: ENSP00000471406.1:p.Gly562Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.685G>A
  hgvsp: ENSP00000471408.1:p.Gly229Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1975G>A
  hgvsp: ENSP00000291842.4:p.Gly659Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2002G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1732G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.603G>A
  hgvsp: ENSP00000469713.1:p.Gly202Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.776G>A
  hgvsp: ENSP00000470517.1:p.Gly260Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.421G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1900G>A
  hgvsp: ENSP00000472711.1:p.Gly634Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.282G>A
  hgvsp: ENSP00000471845.1:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.378G>A
  hgvsp: ENSP00000471296.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.345G>A
  hgvsp: ENSP00000470505.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.640G>A
  hgvsp: ENSP00000471173.1:p.Gly214Ser
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly659Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-41096966-TGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096963
    reference: chr 19
allele count: 1
allele frequency: 8.55431993156544e-6
allele num: 116900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.350_352delGGG
  hgvsp: ENSP00000470505.1:p.Gly118del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.608_610delGGG
  hgvsp: ENSP00000469713.1:p.Gly204del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.426_428delGGG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.690_692delGGG
  hgvsp: ENSP00000471408.1:p.Gly231del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1905_1907delGGG
  hgvsp: ENSP00000472711.1:p.Gly636del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2007_2009delGGG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1688_1690delGGG
  hgvsp: ENSP00000471406.1:p.Gly564del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.645_647delGGG
  hgvsp: ENSP00000471173.1:p.Gly216del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*163_*165delGGG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1737_1739delGGG
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.287_289delGGG
  hgvsp: ENSP00000471845.1:p.Gly97del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.383_385delGGG
  hgvsp: ENSP00000471296.1:p.Gly129del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1980_1982delGGG
  hgvsp: ENSP00000291842.4:p.Gly661del
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.781_783delGGG
  hgvsp: ENSP00000470517.1:p.Gly262del
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly661del
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: TGGG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-41096969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096969
    reference: chr 19
allele count: 7
allele frequency: 5.994382407343975e-5
allele num: 116776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.608G>A
  hgvsp: ENST00000600320.1:c.608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.781G>A
  hgvsp: ENST00000602011.1:c.781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1688G>A
  hgvsp: ENST00000600718.1:c.1688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.350G>A
  hgvsp: ENST00000595726.1:c.350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.645G>A
  hgvsp: ENST00000593764.1:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.287G>A
  hgvsp: ENST00000594862.1:c.287G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1905G>A
  hgvsp: ENST00000600733.1:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.690G>A
  hgvsp: ENST00000597396.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.383G>A
  hgvsp: ENST00000594298.1:c.383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1980G>A
  hgvsp: ENST00000291842.5:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1737G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.426G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2007G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16991
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Gly660Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-41096985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096985
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096985
    reference: chr 19
allele count: 1
allele frequency: 8.580303056303948e-6
allele num: 116546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.797C>T
  hgvsp: ENSP00000470517.1:p.Arg267Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1753C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1921C>T
  hgvsp: ENSP00000472711.1:p.Arg641Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.366C>T
  hgvsp: ENSP00000470505.1:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1996C>T
  hgvsp: ENSP00000291842.4:p.Arg666Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.399C>T
  hgvsp: ENSP00000471296.1:p.Arg134Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1704C>T
  hgvsp: ENSP00000471406.1:p.Arg569Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.661C>T
  hgvsp: ENSP00000471173.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.303C>T
  hgvsp: ENSP00000471845.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.706C>T
  hgvsp: ENSP00000471408.1:p.Arg236Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2023C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.624C>T
  hgvsp: ENSP00000469713.1:p.Arg209Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.442C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg666Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-41096986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096986
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096986
    reference: chr 19
allele count: 5
allele frequency: 4.291992858123884e-5
allele num: 116496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.1997G>A
  hgvsp: ENSP00000291842.4:p.Arg666His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.367G>A
  hgvsp: ENSP00000470505.1:p.Arg123His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.707G>A
  hgvsp: ENSP00000471408.1:p.Arg236His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1754G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.798G>A
  hgvsp: ENSP00000470517.1:p.Arg267His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.443G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.400G>A
  hgvsp: ENSP00000471296.1:p.Arg134His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.625G>A
  hgvsp: ENSP00000469713.1:p.Arg209His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.662G>A
  hgvsp: ENSP00000471173.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1922G>A
  hgvsp: ENSP00000472711.1:p.Arg641His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1705G>A
  hgvsp: ENSP00000471406.1:p.Arg569His
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2024G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.304G>A
  hgvsp: ENSP00000471845.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg666His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-41096990-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096990
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 116594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.711C>A
  hgvsp: ENSP00000471408.1:p.Cys237Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.404C>A
  hgvsp: ENSP00000471296.1:p.Cys135Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.371C>A
  hgvsp: ENSP00000470505.1:p.Cys124Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.308C>A
  hgvsp: ENSP00000471845.1:p.Cys103Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*184C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2001C>A
  hgvsp: ENSP00000291842.4:p.Cys667Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.802C>A
  hgvsp: ENSP00000470517.1:p.Cys268Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1709C>A
  hgvsp: ENSP00000471406.1:p.Cys570Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.666C>A
  hgvsp: ENSP00000471173.1:p.Cys222Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1758C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1926C>A
  hgvsp: ENSP00000472711.1:p.Cys642Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000602239
  gene symbol: SHKBP1
  hgvsc: ENST00000602239.1:n.447C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.629C>A
  hgvsp: ENSP00000469713.1:p.Cys210Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2028C>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys667Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-41096995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096995
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096995
    reference: chr 19
allele count: 1
allele frequency: 8.563550105331666e-6
allele num: 116774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.634A>G
  hgvsp: ENSP00000469713.1:p.Glu212Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.807A>G
  hgvsp: ENSP00000470517.1:p.Glu270Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.671A>G
  hgvsp: ENSP00000471173.1:p.Glu224Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*189A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1931A>G
  hgvsp: ENSP00000472711.1:p.Glu644Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1714A>G
  hgvsp: ENSP00000471406.1:p.Glu572Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.716A>G
  hgvsp: ENSP00000471408.1:p.Glu239Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2006A>G
  hgvsp: ENSP00000291842.4:p.Glu669Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2033A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1763A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.376A>G
  hgvsp: ENSP00000470505.1:p.Glu126Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.313A>G
  hgvsp: ENSP00000471845.1:p.Glu105Gly
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.409A>G
  hgvsp: ENSP00000471296.1:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu669Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

19-41096998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41096998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41096998
    reference: chr 19
allele count: 1
allele frequency: 8.567658801555887e-6
allele num: 116718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2009T>C
  hgvsp: ENSP00000291842.4:p.Leu670Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.379T>C
  hgvsp: ENSP00000470505.1:p.Leu127Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*192T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.316T>C
  hgvsp: ENSP00000471845.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.637T>C
  hgvsp: ENSP00000469713.1:p.Leu213Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1717T>C
  hgvsp: ENSP00000471406.1:p.Leu573Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.719T>C
  hgvsp: ENSP00000471408.1:p.Leu240Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.412T>C
  hgvsp: ENSP00000471296.1:p.Leu138Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1934T>C
  hgvsp: ENSP00000472711.1:p.Leu645Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1766T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.674T>C
  hgvsp: ENSP00000471173.1:p.Leu225Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2036T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.810T>C
  hgvsp: ENSP00000470517.1:p.Leu271Pro
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20017
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu670Pro
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: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-41097000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097000
    reference: chr 19
allele count: 1
allele frequency: 8.564576909900651e-6
allele num: 116760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1768G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.721G>A
  hgvsp: ENSP00000471408.1:p.Val241Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1936G>A
  hgvsp: ENSP00000472711.1:p.Val646Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.639G>A
  hgvsp: ENSP00000469713.1:p.Val214Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2011G>A
  hgvsp: ENSP00000291842.4:p.Val671Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*194G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.318G>A
  hgvsp: ENSP00000471845.1:p.Val107Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.414G>A
  hgvsp: ENSP00000471296.1:p.Val139Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.381G>A
  hgvsp: ENSP00000470505.1:p.Val128Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1719G>A
  hgvsp: ENSP00000471406.1:p.Val574Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.812G>A
  hgvsp: ENSP00000470517.1:p.Val272Met
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2038G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.676G>A
  hgvsp: ENSP00000471173.1:p.Val226Met
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val671Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-41097002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097002
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097002
    reference: chr 19
allele count: 1
allele frequency: 8.566190957528826e-6
allele num: 116738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.416G>A
  hgvsp: ENST00000594298.1:c.416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.383G>A
  hgvsp: ENST00000595726.1:c.383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.641G>A
  hgvsp: ENST00000600320.1:c.641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.320G>A
  hgvsp: ENST00000594862.1:c.320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.723G>A
  hgvsp: ENST00000597396.1:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.814G>A
  hgvsp: ENST00000602011.1:c.814G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2013G>A
  hgvsp: ENST00000291842.5:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.678G>A
  hgvsp: ENST00000593764.1:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1721G>A
  hgvsp: ENST00000600718.1:c.1721G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1770G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1938G>A
  hgvsp: ENST00000600733.1:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2040G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val671Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-41097003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097003
    reference: chr 19
allele count: 3
allele frequency: 2.571531432685879e-5
allele num: 116662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.679C>T
  hgvsp: ENSP00000471173.1:p.Arg227Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1939C>T
  hgvsp: ENSP00000472711.1:p.Arg647Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.815C>T
  hgvsp: ENSP00000470517.1:p.Arg273Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1771C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1722C>T
  hgvsp: ENSP00000471406.1:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2014C>T
  hgvsp: ENSP00000291842.4:p.Arg672Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.724C>T
  hgvsp: ENSP00000471408.1:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.417C>T
  hgvsp: ENSP00000471296.1:p.Arg140Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.642C>T
  hgvsp: ENSP00000469713.1:p.Arg215Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2041C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.384C>T
  hgvsp: ENSP00000470505.1:p.Arg129Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.321C>T
  hgvsp: ENSP00000471845.1:p.Arg108Trp
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg672Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

19-41097004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097004
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097004
    reference: chr 19
allele count: 2
allele frequency: 1.712240809547455e-5
allele num: 116806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.385G>A
  hgvsp: ENSP00000470505.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1772G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1723G>A
  hgvsp: ENSP00000471406.1:p.Arg575Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1940G>A
  hgvsp: ENSP00000472711.1:p.Arg647Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2042G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.725G>A
  hgvsp: ENSP00000471408.1:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.680G>A
  hgvsp: ENSP00000471173.1:p.Arg227Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2015G>A
  hgvsp: ENSP00000291842.4:p.Arg672Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.322G>A
  hgvsp: ENSP00000471845.1:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.418G>A
  hgvsp: ENSP00000471296.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.643G>A
  hgvsp: ENSP00000469713.1:p.Arg215Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.816G>A
  hgvsp: ENSP00000470517.1:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg672Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-41097007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097007
    reference: chr 19
allele count: 4
allele frequency: 3.4196802598957e-5
allele num: 116970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1775G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.325G>C
  hgvsp: ENSP00000471845.1:p.Ser109Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.646G>C
  hgvsp: ENSP00000469713.1:p.Ser216Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.819G>C
  hgvsp: ENSP00000470517.1:p.Ser274Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1726G>C
  hgvsp: ENSP00000471406.1:p.Ser576Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.683G>C
  hgvsp: ENSP00000471173.1:p.Ser228Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.728G>C
  hgvsp: ENSP00000471408.1:p.Ser243Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.421G>C
  hgvsp: ENSP00000471296.1:p.Ser141Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*201G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1943G>C
  hgvsp: ENSP00000472711.1:p.Ser648Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.388G>C
  hgvsp: ENSP00000470505.1:p.Ser130Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2018G>C
  hgvsp: ENSP00000291842.4:p.Ser673Thr
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2045G>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser673Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-41097022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097022
    reference: chr 19
allele count: 1
allele frequency: 8.493578854386084e-6
allele num: 117736
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2033G>C
  hgvsp: ENSP00000291842.4:p.Arg678Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.834G>C
  hgvsp: ENSP00000470517.1:p.Arg279Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1741G>C
  hgvsp: ENSP00000471406.1:p.Arg581Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2060G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.661G>C
  hgvsp: ENSP00000469713.1:p.Arg221Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.743G>C
  hgvsp: ENSP00000471408.1:p.Arg248Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.403G>C
  hgvsp: ENSP00000470505.1:p.Arg135Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1958G>C
  hgvsp: ENSP00000472711.1:p.Arg653Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.436G>C
  hgvsp: ENSP00000471296.1:p.Arg146Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*216G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1790G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.340G>C
  hgvsp: ENSP00000471845.1:p.Arg114Pro
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.698G>C
  hgvsp: ENSP00000471173.1:p.Arg233Pro
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg678Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-41097024-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097024
    reference: chr 19
allele count: 2
allele frequency: 1.697533483847969e-5
allele num: 117818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.405C>A
  hgvsp: ENST00000595726.1:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1743C>A
  hgvsp: ENST00000600718.1:c.1743C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.342C>A
  hgvsp: ENST00000594862.1:c.342C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.663C>A
  hgvsp: ENST00000600320.1:c.663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.836C>A
  hgvsp: ENST00000602011.1:c.836C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2035C>A
  hgvsp: ENST00000291842.5:c.2035C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.745C>A
  hgvsp: ENST00000597396.1:c.745C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1960C>A
  hgvsp: ENST00000600733.1:c.1960C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2062C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.700C>A
  hgvsp: ENST00000593764.1:c.700C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*218C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.438C>A
  hgvsp: ENST00000594298.1:c.438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1792C>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg679Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-41097024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097024
    reference: chr 19
allele count: 4
allele frequency: 3.395066967695938e-5
allele num: 117818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.745C>T
  hgvsp: ENSP00000471408.1:p.Arg249Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.663C>T
  hgvsp: ENSP00000469713.1:p.Arg222Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.700C>T
  hgvsp: ENSP00000471173.1:p.Arg234Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.342C>T
  hgvsp: ENSP00000471845.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.836C>T
  hgvsp: ENSP00000470517.1:p.Arg280Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.405C>T
  hgvsp: ENSP00000470505.1:p.Arg136Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2035C>T
  hgvsp: ENSP00000291842.4:p.Arg679Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1743C>T
  hgvsp: ENSP00000471406.1:p.Arg582Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1960C>T
  hgvsp: ENSP00000472711.1:p.Arg654Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1792C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.438C>T
  hgvsp: ENSP00000471296.1:p.Arg147Trp
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2062C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg679Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-41097025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097025
    reference: chr 19
allele count: 4
allele frequency: 3.392935907440708e-5
allele num: 117892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.746G>A
  hgvsp: ENSP00000471408.1:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.439G>A
  hgvsp: ENSP00000471296.1:p.Arg147Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.664G>A
  hgvsp: ENSP00000469713.1:p.Arg222Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*219G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2063G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.701G>A
  hgvsp: ENSP00000471173.1:p.Arg234Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.406G>A
  hgvsp: ENSP00000470505.1:p.Arg136Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1744G>A
  hgvsp: ENSP00000471406.1:p.Arg582Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1793G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1961G>A
  hgvsp: ENSP00000472711.1:p.Arg654Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.837G>A
  hgvsp: ENSP00000470517.1:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.343G>A
  hgvsp: ENSP00000471845.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2036G>A
  hgvsp: ENSP00000291842.4:p.Arg679Gln
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25282
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg679Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-41097026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097026
    reference: chr 19
allele count: 2
allele frequency: 1.695720002713152e-5
allele num: 117944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.407G>A
  hgvsp: ENST00000595726.1:c.407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.665G>A
  hgvsp: ENST00000600320.1:c.665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.838G>A
  hgvsp: ENST00000602011.1:c.838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1745G>A
  hgvsp: ENST00000600718.1:c.1745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1962G>A
  hgvsp: ENST00000600733.1:c.1962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.747G>A
  hgvsp: ENST00000597396.1:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2037G>A
  hgvsp: ENST00000291842.5:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.440G>A
  hgvsp: ENST00000594298.1:c.440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2064G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.702G>A
  hgvsp: ENST00000593764.1:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1794G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.344G>A
  hgvsp: ENST00000594862.1:c.344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg679Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-41097026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097026
    reference: chr 19
allele count: 1
allele frequency: 8.47860001356576e-6
allele num: 117944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.407G>C
  hgvsp: ENST00000595726.1:c.407G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1745G>C
  hgvsp: ENST00000600718.1:c.1745G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.665G>C
  hgvsp: ENST00000600320.1:c.665G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2064G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.440G>C
  hgvsp: ENST00000594298.1:c.440G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1962G>C
  hgvsp: ENST00000600733.1:c.1962G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.747G>C
  hgvsp: ENST00000597396.1:c.747G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.344G>C
  hgvsp: ENST00000594862.1:c.344G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2037G>C
  hgvsp: ENST00000291842.5:c.2037G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1794G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.838G>C
  hgvsp: ENST00000602011.1:c.838G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.702G>C
  hgvsp: ENST00000593764.1:c.702G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*220G>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg679Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-41097035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097035
    reference: chr 19
allele count: 5
allele frequency: 4.225042672930997e-5
allele num: 118342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.416A>G
  hgvsp: ENST00000595726.1:c.416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1803A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2046A>G
  hgvsp: ENST00000291842.5:c.2046A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1971A>G
  hgvsp: ENST00000600733.1:c.1971A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*229A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.353A>G
  hgvsp: ENST00000594862.1:c.353A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1754A>G
  hgvsp: ENST00000600718.1:c.1754A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.756A>G
  hgvsp: ENST00000597396.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.711A>G
  hgvsp: ENST00000593764.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.847A>G
  hgvsp: ENST00000602011.1:c.847A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2073A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.449A>G
  hgvsp: ENST00000594298.1:c.449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.674A>G
  hgvsp: ENST00000600320.1:c.674A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr682Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-41097043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097043
    reference: chr 19
allele count: 5
allele frequency: 4.214927587544046e-5
allele num: 118626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.424C>T
  hgvsp: ENSP00000470505.1:p.Pro142Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.764C>T
  hgvsp: ENSP00000471408.1:p.Pro255Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.855C>T
  hgvsp: ENSP00000470517.1:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.682C>T
  hgvsp: ENSP00000469713.1:p.Pro228Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1811C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*237C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1762C>T
  hgvsp: ENSP00000471406.1:p.Pro588Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1979C>T
  hgvsp: ENSP00000472711.1:p.Pro660Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.457C>T
  hgvsp: ENSP00000471296.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.719C>T
  hgvsp: ENSP00000471173.1:p.Pro240Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2054C>T
  hgvsp: ENSP00000291842.4:p.Pro685Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.361C>T
  hgvsp: ENSP00000471845.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2081C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro685Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-41097044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097044
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097044
    reference: chr 19
allele count: 5
allele frequency: 4.212157972772611e-5
allele num: 118704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1812G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.425G>A
  hgvsp: ENST00000595726.1:c.425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2055G>A
  hgvsp: ENST00000291842.5:c.2055G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1763G>A
  hgvsp: ENST00000600718.1:c.1763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2082G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.683G>A
  hgvsp: ENST00000600320.1:c.683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.765G>A
  hgvsp: ENST00000597396.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.856G>A
  hgvsp: ENST00000602011.1:c.856G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1980G>A
  hgvsp: ENST00000600733.1:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.362G>A
  hgvsp: ENST00000594862.1:c.362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.458G>A
  hgvsp: ENST00000594298.1:c.458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.720G>A
  hgvsp: ENST00000593764.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro685Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-41097046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097046
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097046
    reference: chr 19
allele count: 1
allele frequency: 8.422471153036301e-6
allele num: 118730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2084G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.460G>A
  hgvsp: ENSP00000471296.1:p.Trp154Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.427G>A
  hgvsp: ENSP00000470505.1:p.Trp143Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.685G>A
  hgvsp: ENSP00000469713.1:p.Trp229Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.858G>A
  hgvsp: ENSP00000470517.1:p.Trp287Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.767G>A
  hgvsp: ENSP00000471408.1:p.Trp256Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1765G>A
  hgvsp: ENSP00000471406.1:p.Trp589Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1814G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.722G>A
  hgvsp: ENSP00000471173.1:p.Trp241Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1982G>A
  hgvsp: ENSP00000472711.1:p.Trp661Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2057G>A
  hgvsp: ENSP00000291842.4:p.Trp686Ter
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.364G>A
  hgvsp: ENSP00000471845.1:p.Trp122Ter
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp686Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

19-41097056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097056
    reference: chr 19
allele count: 2
allele frequency: 1.686824216048446e-5
allele num: 118566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2094C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.437C>T
  hgvsp: ENST00000595726.1:c.437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1775C>T
  hgvsp: ENST00000600718.1:c.1775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.732C>T
  hgvsp: ENST00000593764.1:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.868C>T
  hgvsp: ENST00000602011.1:c.868C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1824C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*250C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.695C>T
  hgvsp: ENST00000600320.1:c.695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2067C>T
  hgvsp: ENST00000291842.5:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1992C>T
  hgvsp: ENST00000600733.1:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.777C>T
  hgvsp: ENST00000597396.1:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.374C>T
  hgvsp: ENST00000594862.1:c.374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.470C>T
  hgvsp: ENST00000594298.1:c.470C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser689Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-41097057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097057
    reference: chr 19
allele count: 7
allele frequency: 5.904382738958804e-5
allele num: 118556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.733G>A
  hgvsp: ENSP00000471173.1:p.Gly245Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.375G>A
  hgvsp: ENSP00000471845.1:p.Gly126Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.869G>A
  hgvsp: ENSP00000470517.1:p.Gly291Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.471G>A
  hgvsp: ENSP00000471296.1:p.Gly158Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1776G>A
  hgvsp: ENSP00000471406.1:p.Gly593Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2068G>A
  hgvsp: ENSP00000291842.4:p.Gly690Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.778G>A
  hgvsp: ENSP00000471408.1:p.Gly260Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.696G>A
  hgvsp: ENSP00000469713.1:p.Gly233Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2095G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1825G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1993G>A
  hgvsp: ENSP00000472711.1:p.Gly665Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.438G>A
  hgvsp: ENSP00000470505.1:p.Gly147Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly690Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-41097059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097059
    reference: chr 19
allele count: 22
allele frequency: 1.856352099365465e-4
allele num: 118512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1995T>C
  hgvsp: ENST00000600733.1:c.1995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.698T>C
  hgvsp: ENST00000600320.1:c.698T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.440T>C
  hgvsp: ENST00000595726.1:c.440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2070T>C
  hgvsp: ENST00000291842.5:c.2070T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*253T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1827T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.377T>C
  hgvsp: ENST00000594862.1:c.377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1778T>C
  hgvsp: ENST00000600718.1:c.1778T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2097T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.473T>C
  hgvsp: ENST00000594298.1:c.473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.871T>C
  hgvsp: ENST00000602011.1:c.871T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.780T>C
  hgvsp: ENST00000597396.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.735T>C
  hgvsp: ENST00000593764.1:c.735T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly690Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-41097062-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097062
    reference: chr 19
allele count: 2
allele frequency: 1.688789813219847e-5
allele num: 118428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.874C>G
  hgvsp: ENST00000602011.1:c.874C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1781C>G
  hgvsp: ENST00000600718.1:c.1781C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2073C>G
  hgvsp: ENST00000291842.5:c.2073C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.701C>G
  hgvsp: ENST00000600320.1:c.701C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.380C>G
  hgvsp: ENST00000594862.1:c.380C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*256C>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.443C>G
  hgvsp: ENST00000595726.1:c.443C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2100C>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.738C>G
  hgvsp: ENST00000593764.1:c.738C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.476C>G
  hgvsp: ENST00000594298.1:c.476C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1998C>G
  hgvsp: ENST00000600733.1:c.1998C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.783C>G
  hgvsp: ENST00000597396.1:c.783C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1830C>G
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu691Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-41097062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097062
    reference: chr 19
allele count: 2
allele frequency: 1.688789813219847e-5
allele num: 118428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1998C>T
  hgvsp: ENST00000600733.1:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.380C>T
  hgvsp: ENST00000594862.1:c.380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.874C>T
  hgvsp: ENST00000602011.1:c.874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.443C>T
  hgvsp: ENST00000595726.1:c.443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2100C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.476C>T
  hgvsp: ENST00000594298.1:c.476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.783C>T
  hgvsp: ENST00000597396.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.701C>T
  hgvsp: ENST00000600320.1:c.701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1781C>T
  hgvsp: ENST00000600718.1:c.1781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2073C>T
  hgvsp: ENST00000291842.5:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.738C>T
  hgvsp: ENST00000593764.1:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1830C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu691Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-41097063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
allele count: 1
allele frequency: 8.444519506840061e-6
allele num: 118420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.784G>A
  hgvsp: ENSP00000471408.1:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2074G>A
  hgvsp: ENSP00000291842.4:p.Gly692Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.702G>A
  hgvsp: ENSP00000469713.1:p.Gly235Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.444G>A
  hgvsp: ENSP00000470505.1:p.Gly149Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2101G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.875G>A
  hgvsp: ENSP00000470517.1:p.Gly293Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.477G>A
  hgvsp: ENSP00000471296.1:p.Gly160Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.739G>A
  hgvsp: ENSP00000471173.1:p.Gly247Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1999G>A
  hgvsp: ENSP00000472711.1:p.Gly667Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1782G>A
  hgvsp: ENSP00000471406.1:p.Gly595Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.381G>A
  hgvsp: ENSP00000471845.1:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1831G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*257G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly692Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-41097063-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
allele count: 3
allele frequency: 2.533355852052018e-5
allele num: 118420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.784G>C
  hgvsp: ENSP00000471408.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.875G>C
  hgvsp: ENSP00000470517.1:p.Gly293Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.702G>C
  hgvsp: ENSP00000469713.1:p.Gly235Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.739G>C
  hgvsp: ENSP00000471173.1:p.Gly247Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.444G>C
  hgvsp: ENSP00000470505.1:p.Gly149Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2101G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.477G>C
  hgvsp: ENSP00000471296.1:p.Gly160Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1831G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1999G>C
  hgvsp: ENSP00000472711.1:p.Gly667Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2074G>C
  hgvsp: ENSP00000291842.4:p.Gly692Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.381G>C
  hgvsp: ENSP00000471845.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*257G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1782G>C
  hgvsp: ENSP00000471406.1:p.Gly595Arg
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly692Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-41097063-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097063
    reference: chr 19
allele count: 1
allele frequency: 8.444519506840061e-6
allele num: 118420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2101G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1831G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.444G>T
  hgvsp: ENSP00000470505.1:p.Gly149Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2074G>T
  hgvsp: ENSP00000291842.4:p.Gly692Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.477G>T
  hgvsp: ENSP00000471296.1:p.Gly160Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.875G>T
  hgvsp: ENSP00000470517.1:p.Gly293Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.784G>T
  hgvsp: ENSP00000471408.1:p.Gly262Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.739G>T
  hgvsp: ENSP00000471173.1:p.Gly247Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.381G>T
  hgvsp: ENSP00000471845.1:p.Gly128Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.1999G>T
  hgvsp: ENSP00000472711.1:p.Gly667Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*257G>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.702G>T
  hgvsp: ENSP00000469713.1:p.Gly235Cys
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1782G>T
  hgvsp: ENSP00000471406.1:p.Gly595Cys
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly692Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-41097064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097064
    reference: chr 19
allele count: 1
allele frequency: 8.448371998715848e-6
allele num: 118366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2102G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.785G>C
  hgvsp: ENSP00000471408.1:p.Gly262Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.382G>C
  hgvsp: ENSP00000471845.1:p.Gly128Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.703G>C
  hgvsp: ENSP00000469713.1:p.Gly235Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*258G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.876G>C
  hgvsp: ENSP00000470517.1:p.Gly293Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2075G>C
  hgvsp: ENSP00000291842.4:p.Gly692Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1783G>C
  hgvsp: ENSP00000471406.1:p.Gly595Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2000G>C
  hgvsp: ENSP00000472711.1:p.Gly667Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.478G>C
  hgvsp: ENSP00000471296.1:p.Gly160Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.445G>C
  hgvsp: ENSP00000470505.1:p.Gly149Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.740G>C
  hgvsp: ENSP00000471173.1:p.Gly247Ala
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1832G>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly692Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-41097072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097072
    reference: chr 19
allele count: 1
allele frequency: 8.487235198261813e-6
allele num: 117824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.711C>T
  hgvsp: ENSP00000469713.1:p.Leu238Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1840C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.390C>T
  hgvsp: ENSP00000471845.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2083C>T
  hgvsp: ENSP00000291842.4:p.Leu695Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.486C>T
  hgvsp: ENSP00000471296.1:p.Leu163Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.793C>T
  hgvsp: ENSP00000471408.1:p.Leu265Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1791C>T
  hgvsp: ENSP00000471406.1:p.Leu598Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470517
  ensembl transcript: ENST00000602011
  gene symbol: SHKBP1
  hgvsc: ENST00000602011.1:c.884C>T
  hgvsp: ENSP00000470517.1:p.Leu296Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.453C>T
  hgvsp: ENSP00000470505.1:p.Leu152Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.748C>T
  hgvsp: ENSP00000471173.1:p.Leu250Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2008C>T
  hgvsp: ENSP00000472711.1:p.Leu670Phe
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2110C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu695Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

19-41097090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097090
    reference: chr 19
allele count: 2
allele frequency: 1.737830839546079e-5
allele num: 115086
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2101A>G
  hgvsp: ENSP00000291842.4:p.Lys701Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.811A>G
  hgvsp: ENSP00000471408.1:p.Lys271Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1858A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.408A>G
  hgvsp: ENSP00000471845.1:p.Lys137Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1809A>G
  hgvsp: ENSP00000471406.1:p.Lys604Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.471A>G
  hgvsp: ENSP00000470505.1:p.Lys158Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.729A>G
  hgvsp: ENSP00000469713.1:p.Lys244Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.504A>G
  hgvsp: ENSP00000471296.1:p.Lys169Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2128A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.766A>G
  hgvsp: ENSP00000471173.1:p.Lys256Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2026A>G
  hgvsp: ENSP00000472711.1:p.Lys676Glu
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*284A>G
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys701Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-41097097-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097097
    reference: chr 19
allele count: 2
allele frequency: 1.754232084904833e-5
allele num: 114010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2033A>G
  hgvsp: ENSP00000472711.1:p.Asn678Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2108A>G
  hgvsp: ENSP00000291842.4:p.Asn703Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.415A>G
  hgvsp: ENSP00000471845.1:p.Asn139Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2135A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.818A>G
  hgvsp: ENSP00000471408.1:p.Asn273Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.736A>G
  hgvsp: ENSP00000469713.1:p.Asn246Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.478A>G
  hgvsp: ENSP00000470505.1:p.Asn160Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.511A>G
  hgvsp: ENSP00000471296.1:p.Asn171Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1865A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*291A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.773A>G
  hgvsp: ENSP00000471173.1:p.Asn258Ser
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1816A>G
  hgvsp: ENSP00000471406.1:p.Asn606Ser
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn703Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/19-41097107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097107
    reference: chr 19
allele count: 7
allele frequency: 6.290551591509552e-5
allele num: 111278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2118C>A
  hgvsp: ENST00000291842.5:c.2118C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.746C>A
  hgvsp: ENST00000600320.1:c.746C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.828C>A
  hgvsp: ENST00000597396.1:c.828C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1875C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1826C>A
  hgvsp: ENST00000600718.1:c.1826C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.783C>A
  hgvsp: ENST00000593764.1:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.425C>A
  hgvsp: ENST00000594862.1:c.425C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.488C>A
  hgvsp: ENST00000595726.1:c.488C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*301C>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2043C>A
  hgvsp: ENST00000600733.1:c.2043C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.521C>A
  hgvsp: ENST00000594298.1:c.521C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2145C>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser706Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

19-41097107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097107
    reference: chr 19
allele count: 2
allele frequency: 1.797300454717015e-5
allele num: 111278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*301C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.521C>T
  hgvsp: ENST00000594298.1:c.521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.828C>T
  hgvsp: ENST00000597396.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.2118C>T
  hgvsp: ENST00000291842.5:c.2118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.2043C>T
  hgvsp: ENST00000600733.1:c.2043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2145C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1875C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.488C>T
  hgvsp: ENST00000595726.1:c.488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.1826C>T
  hgvsp: ENST00000600718.1:c.1826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.783C>T
  hgvsp: ENST00000593764.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.746C>T
  hgvsp: ENST00000600320.1:c.746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.425C>T
  hgvsp: ENST00000594862.1:c.425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser706Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-41097118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097118
    reference: chr 19
allele count: 2
allele frequency: 1.873641609832871e-5
allele num: 106744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*312C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1886C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2156C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-41097119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097119
    reference: chr 19
allele count: 8
allele frequency: 7.524029870398585e-5
allele num: 106326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2157G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1887G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-41097120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097120
    reference: chr 19
allele count: 17
allele frequency: 1.606258739937261e-4
allele num: 105836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2158C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*314C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*7C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1888C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18528
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-41097123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097123
    reference: chr 19
allele count: 4
allele frequency: 3.816429729987596e-5
allele num: 104810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*317C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2161C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1891C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17440
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-41097125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097125
    reference: chr 19
allele count: 1
allele frequency: 9.605594298119224e-6
allele num: 104106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1893G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2163G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-41097128-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097128
    reference: chr 19
allele count: 1
allele frequency: 9.675109812496373e-6
allele num: 103358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1896A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*322A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2166A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-41097128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097128
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097128
    reference: chr 19
allele count: 6
allele frequency: 5.805065887497823e-5
allele num: 103358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*322A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2166A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1896A>G
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-41097133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097133
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097133
    reference: chr 19
allele count: 2
allele frequency: 1.982121266179065e-5
allele num: 100902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1901G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2171G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

19-41097139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097139
    reference: chr 19
allele count: 1
allele frequency: 1.007191346211953e-5
allele num: 99286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1907G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*333G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2177G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-41097145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097145
    reference: chr 19
allele count: 2
allele frequency: 2.046287012216334e-5
allele num: 97738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1913C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*339C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2183C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-41097147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097147
    reference: chr 19
allele count: 3
allele frequency: 3.082170670063904e-5
allele num: 97334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*341T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2185T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1915T>C
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-41097148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097148
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097148
    reference: chr 19
allele count: 1
allele frequency: 1.034918137975286e-5
allele num: 96626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1916G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*342G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2186G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-41097151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097151
    reference: chr 19
allele count: 2
allele frequency: 2.08073241781107e-5
allele num: 96120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2189C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1919C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*345C>T
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-41097158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41097158
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41097158
    reference: chr 19
allele count: 1
allele frequency: 1.072179096796329e-5
allele num: 93268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471845
  ensembl transcript: ENST00000594862
  gene symbol: SHKBP1
  hgvsc: ENST00000594862.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471173
  ensembl transcript: ENST00000593764
  gene symbol: SHKBP1
  hgvsc: ENST00000593764.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000469713
  ensembl transcript: ENST00000600320
  gene symbol: SHKBP1
  hgvsc: ENST00000600320.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000598201
  gene symbol: SHKBP1
  hgvsc: ENST00000598201.1:n.1926G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471406
  ensembl transcript: ENST00000600718
  gene symbol: SHKBP1
  hgvsc: ENST00000600718.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000470505
  ensembl transcript: ENST00000595726
  gene symbol: SHKBP1
  hgvsc: ENST00000595726.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000291842
  ensembl transcript: ENST00000291842
  gene symbol: SHKBP1
  hgvsc: ENST00000291842.5:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472222
  ensembl transcript: ENST00000596163
  gene symbol: SHKBP1
  hgvsc: ENST00000596163.1:c.*352G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000472711
  ensembl transcript: ENST00000600733
  gene symbol: SHKBP1
  hgvsc: ENST00000600733.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471408
  ensembl transcript: ENST00000597396
  gene symbol: SHKBP1
  hgvsc: ENST00000597396.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000160410
  ensembl protein: ENSP00000471296
  ensembl transcript: ENST00000594298
  gene symbol: SHKBP1
  hgvsc: ENST00000594298.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/19214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160410
  ensembl transcript: ENST00000594973
  gene symbol: SHKBP1
  hgvsc: ENST00000594973.1:n.2196G>A
  variant of: http://identifiers.org/hgnc/19214
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-41099025-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099025
    reference: chr 19
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.237T>A
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-41099030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099030
    reference: chr 19
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.242A>G
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9788
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66692
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-41099037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099037
    reference: chr 19
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.249G>A
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28203
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4251
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9786
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66688
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-41099038-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099038
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099038
    reference: chr 19
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.250G>T
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28204
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66688
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-41099039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099039
    reference: chr 19
allele count: 54
allele frequency: 4.530581424616159e-4
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.251A>G
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27718
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.679048776254123e-5
  allele num: 11522
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8586
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-41099045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099045
    reference: chr 19
allele count: 61
allele frequency: 5.055108974890197e-4
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.257C>T
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 574
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28533
  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4630
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genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 12
  allele frequency: 1.037523776586547e-3
  allele num: 11566
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
  type: Population
  allele count: 42
  allele frequency: 4.291845493562232e-3
  allele num: 9786
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-41099053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099053
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099053
    reference: chr 19
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.265C>T
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 573
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genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9788
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499430216517723e-5
  allele num: 66692
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-41099054-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099054
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099054
    reference: chr 19
allele count: 2
allele frequency: 1.657138122462507e-5
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.266A>C
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 573
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 28505
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66692
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.644536652835408e-5
  allele num: 11568
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-41099065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099065
    reference: chr 19
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.277A>G
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9790
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.728608470181504e-4
  allele num: 11570
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-41099074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099074
    reference: chr 19
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000204005
  ensembl transcript: ENST00000204005
  gene symbol: LTBP4
  hgvsc: ENST00000204005.9:c.3G>A
  hgvsp: ENSP00000204005.9:p.Met1?
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.286G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000602240
  gene symbol: LTBP4
  hgvsc: ENST00000602240.1:n.3G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000441054
  ensembl transcript: ENST00000545697
  gene symbol: LTBP4
  hgvsc: ENST00000545697.1:c.-1528G>A
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-41099081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099081
    reference: chr 19
allele count: 5
allele frequency: 4.142639358388016e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000204005
  ensembl transcript: ENST00000204005
  gene symbol: LTBP4
  hgvsc: ENST00000204005.9:c.10G>A
  hgvsp: ENSP00000204005.9:p.Val4Ile
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.293G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000441054
  ensembl transcript: ENST00000545697
  gene symbol: LTBP4
  hgvsc: ENST00000545697.1:c.-1521G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000602240
  gene symbol: LTBP4
  hgvsc: ENST00000602240.1:n.10G>A
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val4Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-41099092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41099092
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41099092
    reference: chr 19
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000204005
  ensembl transcript: ENST00000204005
  gene symbol: LTBP4
  hgvsc: ENST00000204005.9:c.16+5G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090006
  ensembl protein: ENSP00000441054
  ensembl transcript: ENST00000545697
  gene symbol: LTBP4
  hgvsc: ENST00000545697.1:c.-1515+5G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000600026
  gene symbol: LTBP4
  hgvsc: ENST00000600026.1:n.299+5G>A
  variant of: http://identifiers.org/hgnc/6717
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090006
  ensembl transcript: ENST00000602240
  gene symbol: LTBP4
  hgvsc: ENST00000602240.1:n.16+5G>A
  variant of: http://identifiers.org/hgnc/6717
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: c.-1515+5G>A
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 3853
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24652
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1105
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 583
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1548
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33395
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548706829797119e-5
allele num: 64570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.007e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

DP
type: SiteQuality
SIO_000300: 1.522195e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeDepth
all individuals: 128
bin: 6.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 11
allele frequency: 1.707120243342231e-4
allele num: 64436
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 4
allele frequency: 4.678362573099415e-4
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 3.5e-3

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

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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allele frequency: 1.288961799859386e-3
allele num: 8534
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.655337227827934e-4
allele num: 11298
num of homozygotes: 0

African
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allele count: 7
allele frequency: 7.235890014471779e-4
allele num: 9674
num of homozygotes: 0

South Asian
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allele frequency: 6.1667488899852e-5
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num of homozygotes: 0

FS
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

QD
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.553229163430773e-5
allele num: 64382
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.507624e6

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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East Asian
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European (Non-Finnish)
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allele num: 64326
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South Asian
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MQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele frequency: 1.17096018735363e-4
allele num: 8540
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: 6.99e-1

VQSLOD
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FS
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.637e1

ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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allele frequency: 8.885729518393461e-5
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.559478510386127e-5
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African
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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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European (Finnish)
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Other
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East Asian
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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Latino
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South Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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MQ
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FS
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 0
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East Asian
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allele num: 8524
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South Asian
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Other
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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Latino
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FS
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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FS
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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GenotypeDepth
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.172458490216653e-5
allele num: 64804
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
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SIO_000300: 5.951e1

InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64838
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.847063169560399e-4
allele num: 16242
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
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SIO_000300: 1.8e-3

DP
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SIO_000300: 1.554893e6

MQRankSum
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SIO_000300: -7.04e-1

ClippingRankSum
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SIO_000300: -8.44e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -2.169e0

FS
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SIO_000300: 1.6767e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08289915836853e-5
allele num: 64874
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.731e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

MQ
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SIO_000300: 5.962e1

MQRankSum
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SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.556519e6

BaseQRankSum
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SIO_000300: -2.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541449579184265e-5
allele num: 64874
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.731e0

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.9e-3

BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

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

African
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allele frequency: 5.06482982171799e-4
allele num: 9872
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.9e-3

QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530830935031535e-5
allele num: 65324
num of homozygotes: 0

African
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allele count: 0
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Other
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South Asian
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allele count: 2
allele frequency: 1.233197681588359e-4
allele num: 16218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: 2.6e-3

VQSLOD
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QD
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SIO_000300: 2.091e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 1175
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059320219047328e-5
allele num: 65374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.634351949420442e-4
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

QD
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SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
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ClippingRankSum
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SIO_000300: 8.999999999999999e-3

DP
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SIO_000300: 1.571545e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.835e0

InbreedingCoeff
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SIO_000300: 2.9e-3

ClippingRankSum
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MQRankSum
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SIO_000300: 3.17e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.572056e6

QD
type: SiteQuality
SIO_000300: 8.07e0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.246096189881324e-5
allele num: 16010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-5
allele num: 65380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.570669e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.583e0

QD
type: SiteQuality
SIO_000300: 2.99e0

GenotypeDepth
all individuals: 151
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 39
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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
all individuals: 238
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GenotypeQuality
all individuals: 6663
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.587717151945192e-5
allele num: 65392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.51123595505618e-4
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.998e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 1.570567e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeDepth
all individuals: 81
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 130
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GenotypeDepth
all individuals: 289
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GenotypeDepth
all individuals: 34
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1722
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1937
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GenotypeQuality
all individuals: 45206
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 2.004409701342955e-3
allele num: 9978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

MQ
type: SiteQuality
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QD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.060724779627816e-5
allele num: 65344
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.36e0

MQ
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SIO_000300: 5.956e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.060724779627816e-5
allele num: 65344
num of homozygotes: 0

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

FS
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SIO_000300: 1.011e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.568202e6

QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.53031555106663e-5
allele num: 65346
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65346
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.632502632502633e-4
allele num: 11396
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65346
num of homozygotes: 0

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

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

MQ
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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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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 65328
num of homozygotes: 0

East Asian
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South Asian
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African
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Latino
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European (Finnish)
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num of homozygotes: 0

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

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

East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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South Asian
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.334267040149393e-4
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.491756e6

FS
type: SiteQuality
SIO_000300: 1.999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 2.75e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.571515170851546e-5
allele num: 62686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041883725776203e-4
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.43627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.12e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.941344778254649e-5
allele num: 11184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595252528475258e-5
allele num: 62686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43627e6

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeDepth
all individuals: 5704
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2787
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 941
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GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60770
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.222493887530562e-4
allele num: 8180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.076889941847943e-4
allele num: 9286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 1.599e0

DP
type: SiteQuality
SIO_000300: 1.333849e6

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.278e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

QD
type: SiteQuality
SIO_000300: 1.074e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
all individuals: 1702
bin: 9.75e1
variant carriers: 8

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.260366760284156e-5
allele num: 60530
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.752798678656634e-4
allele num: 10898
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.323605e6

QD
type: SiteQuality
SIO_000300: 1.206e1

MQRankSum
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SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

GenotypeDepth
all individuals: 165
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 467
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60326
num of homozygotes: 0

African
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allele count: 17
allele frequency: 1.836249729963275e-3
allele num: 9258
num of homozygotes: 0

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

DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.06e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
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SIO_000300: -9.7e-2

QD
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SIO_000300: 1.254e1

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5784
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

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

Latino
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allele frequency: 3.714020427112349e-4
allele num: 10770
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 728
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GenotypeQuality
all individuals: 652
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.678246567985768e-5
allele num: 59586
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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MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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SIO_000300: -1.585e0

ClippingRankSum
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SIO_000300: -1.506e0

MQ
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SIO_000300: 5.889e1

ReadPosRankSum
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SIO_000300: 1.35e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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MQRankSum
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SIO_000300: -2.14e-1

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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SIO_000300: 5.4e-1

DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 2.192982456140351e-4
allele num: 9120
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.689075062495777e-5
allele num: 59204
num of homozygotes: 0

South Asian
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allele num: 10044
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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allele num: 8900
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European (Non-Finnish)
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allele frequency: 1.722474851867163e-5
allele num: 58056
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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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 frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 57320
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South Asian
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African
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Other
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FS
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.53781928819076e-5
allele num: 56532
num of homozygotes: 0

European (Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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MQRankSum
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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QD
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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South Asian
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.776e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 1.018217e6

GenotypeDepth
all individuals: 7158
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variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3644
bin: 7.5e0
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GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 4.25e1
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GenotypeQuality
all individuals: 1244
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.985702938840349e-4
allele num: 10072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 1.007334e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 14849
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variant carriers: 1

GenotypeQuality
all individuals: 8156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12159
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GenotypeQuality
all individuals: 2312
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
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variant carriers: 0

GenotypeQuality
all individuals: 3581
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GenotypeQuality
all individuals: 2807
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variant carriers: 0

GenotypeQuality
all individuals: 3888
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GenotypeQuality
all individuals: 5269
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.846312913112514e-5
allele num: 54162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.76808e5

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.667e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.184e0

QD
type: SiteQuality
SIO_000300: 4.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.506e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 2.707378e6

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.516e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.551e0

VQSLOD
type: SiteQuality
SIO_000300: -4.165e-1

DP
type: SiteQuality
SIO_000300: 2.70779e6

QD
type: SiteQuality
SIO_000300: 1.752e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.009e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 2.708226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.466e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 2.708183e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.551098376313276e-4
allele num: 6282
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.380473496752566e-4
allele num: 9546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.919854280510018e-4
allele num: 65880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.6164e1

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.083e0

VQSLOD
type: SiteQuality
SIO_000300: -4.566e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.632e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 2.683059e6

QD
type: SiteQuality
SIO_000300: 7.8e-1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998980173370527e-5
allele num: 66678
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 1.903e0

DP
type: SiteQuality
SIO_000300: 2.680788e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.448e0

VQSLOD
type: SiteQuality
SIO_000300: -6.216e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
SIO_000300: 2.681847e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

FS
type: SiteQuality
SIO_000300: 6.876e0

DP
type: SiteQuality
SIO_000300: 2.682036e6

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 2.682913e6

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.387e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
all individuals: 4277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4505
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.683135e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.675e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 28502
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4274
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.086636697997548e-4
allele num: 9788
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 2.683243e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3