11-117165968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117165968
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117165968
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.446C>T
  hgvsp: ENSP00000431848.1:p.Pro149Leu
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+67C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.446C>T
  hgvsp: ENSP00000424536.1:p.Pro149Leu
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.446C>T
  hgvsp: ENSP00000318585.6:p.Pro149Leu
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.146C>T
  hgvsp: ENSP00000475405.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.146C>T
  hgvsp: ENSP00000422461.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-257C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-257C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.435+11C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.435+11C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro149Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-117165969-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117165969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117165969
    reference: chr 11
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-258C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.145C>A
  hgvsp: ENSP00000475405.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.445C>A
  hgvsp: ENSP00000318585.6:p.Pro149Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-258C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.435+10C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.445C>A
  hgvsp: ENSP00000431848.1:p.Pro149Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.445C>A
  hgvsp: ENSP00000424536.1:p.Pro149Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.145C>A
  hgvsp: ENSP00000422461.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+66C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.435+10C>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro149Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-117165970-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117165970
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117165970
    reference: chr 11
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-259C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.444C>A
  hgvsp: ENST00000313005.6:c.444C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.444C>A
  hgvsp: ENST00000513780.1:c.444C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-259C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.444C>A
  hgvsp: ENST00000528053.1:c.444C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.144C>A
  hgvsp: ENST00000510630.1:c.144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.144C>A
  hgvsp: ENST00000392937.6:c.144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.435+9C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.435+9C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+65C>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile148Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-117165985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117165985
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117165985
    reference: chr 11
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.429C>T
  hgvsp: ENST00000528053.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+50C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.429C>T
  hgvsp: ENST00000428381.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.429C>T
  hgvsp: ENST00000313005.6:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.129C>T
  hgvsp: ENST00000510630.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-274C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.129C>T
  hgvsp: ENST00000392937.6:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-274C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.429C>T
  hgvsp: ENST00000445823.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.429C>T
  hgvsp: ENST00000513780.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr143Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-117165986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117165986
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117165986
    reference: chr 11
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.428C>T
  hgvsp: ENSP00000402228.2:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.428C>T
  hgvsp: ENSP00000424536.1:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.428C>T
  hgvsp: ENSP00000431848.1:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.428C>T
  hgvsp: ENSP00000403685.2:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.428C>T
  hgvsp: ENSP00000318585.6:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-275C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.128C>T
  hgvsp: ENSP00000475405.1:p.Thr43Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-275C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.128C>T
  hgvsp: ENSP00000422461.1:p.Thr43Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+49C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr143Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

11-117166006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166006
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166006
    reference: chr 11
allele count: 11
allele frequency: 9.064390131351253e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.408G>A
  hgvsp: ENST00000428381.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.408G>A
  hgvsp: ENST00000528053.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.108G>A
  hgvsp: ENST00000510630.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-295G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.408G>A
  hgvsp: ENST00000313005.6:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.408G>A
  hgvsp: ENST00000445823.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.408G>A
  hgvsp: ENST00000513780.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.108G>A
  hgvsp: ENST00000392937.6:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-295G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+29G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys136Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-117166009-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166009
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166009
    reference: chr 11
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+26C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.405C>A
  hgvsp: ENST00000513780.1:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.405C>A
  hgvsp: ENST00000313005.6:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.405C>A
  hgvsp: ENST00000445823.2:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-298C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.105C>A
  hgvsp: ENST00000510630.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.405C>A
  hgvsp: ENST00000528053.1:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.405C>A
  hgvsp: ENST00000428381.2:c.405C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.105C>A
  hgvsp: ENST00000392937.6:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-298C>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly135Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-117166012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166012
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166012
    reference: chr 11
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.402G>A
  hgvsp: ENST00000313005.6:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.402G>A
  hgvsp: ENST00000445823.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.402G>A
  hgvsp: ENST00000428381.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.402G>A
  hgvsp: ENST00000513780.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.102G>A
  hgvsp: ENST00000510630.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.102G>A
  hgvsp: ENST00000392937.6:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.402G>A
  hgvsp: ENST00000528053.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-301G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+23G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln134Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-117166018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166018
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166018
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.396C>T
  hgvsp: ENST00000428381.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.396C>T
  hgvsp: ENST00000445823.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.396C>T
  hgvsp: ENST00000513780.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.96C>T
  hgvsp: ENST00000510630.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.396C>T
  hgvsp: ENST00000528053.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.96C>T
  hgvsp: ENST00000392937.6:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-307C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.396C>T
  hgvsp: ENST00000313005.6:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-307C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+17C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr132Tyr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

11-117166028-TACAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166028
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166024
    reference: chr 11
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.382_385delGTGT
  hgvsp: ENSP00000431848.1:p.Val128MetfsTer18
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-321_-318delGTGT
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.379+3_379+6delGTGT
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.382_385delGTGT
  hgvsp: ENSP00000318585.6:p.Val128MetfsTer18
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.82_85delGTGT
  hgvsp: ENSP00000422461.1:p.Val28MetfsTer18
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.382_385delGTGT
  hgvsp: ENSP00000402228.2:p.Val128MetfsTer38
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.382_385delGTGT
  hgvsp: ENSP00000424536.1:p.Val128MetfsTer18
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-321_-318delGTGT
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.382_385delGTGT
  hgvsp: ENSP00000403685.2:p.Val128MetfsTer30
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.82_85delGTGT
  hgvsp: ENSP00000475405.1:p.Val28MetfsTer18
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val128MetfsTer18
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: TACAC
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-117166040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166040
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166040
    reference: chr 11
allele count: 3
allele frequency: 2.487232207998939e-5
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-329G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.374G>A
  hgvsp: ENSP00000431848.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.74G>A
  hgvsp: ENSP00000422461.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-329G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.374G>A
  hgvsp: ENSP00000424536.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.374G>A
  hgvsp: ENSP00000402228.2:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.74G>A
  hgvsp: ENSP00000475405.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.374G>A
  hgvsp: ENSP00000318585.6:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.374G>A
  hgvsp: ENSP00000403685.2:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.374G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg125Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-117166041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166041
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166041
    reference: chr 11
allele count: 6
allele frequency: 4.974794375165827e-5
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.373C>T
  hgvsp: ENSP00000403685.2:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-330C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.73C>T
  hgvsp: ENSP00000422461.1:p.Arg25Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.373C>T
  hgvsp: ENSP00000424536.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.73C>T
  hgvsp: ENSP00000475405.1:p.Arg25Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.373C>T
  hgvsp: ENSP00000402228.2:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.373C>T
  hgvsp: ENSP00000431848.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.373C>T
  hgvsp: ENSP00000318585.6:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-330C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.373C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg125Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-117166049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166049
    reference: chr 11
allele count: 2
allele frequency: 1.668836153666433e-5
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-338G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-338G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.365G>A
  hgvsp: ENSP00000424536.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.365G>A
  hgvsp: ENSP00000431848.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.365G>A
  hgvsp: ENSP00000403685.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.365G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.65G>A
  hgvsp: ENSP00000422461.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.365G>A
  hgvsp: ENSP00000402228.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.365G>A
  hgvsp: ENSP00000318585.6:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.65G>A
  hgvsp: ENSP00000475405.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg122Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-117166050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166050
    reference: chr 11
allele count: 7
allele frequency: 5.859309605919577e-5
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.364C>T
  hgvsp: ENSP00000403685.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.364C>T
  hgvsp: ENSP00000424536.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.364C>T
  hgvsp: ENSP00000431848.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.64C>T
  hgvsp: ENSP00000422461.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.64C>T
  hgvsp: ENSP00000475405.1:p.Arg22Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.364C>T
  hgvsp: ENSP00000402228.2:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.364C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.364C>T
  hgvsp: ENSP00000318585.6:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25069
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg122Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

11-117166074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166074
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166074
    reference: chr 11
allele count: 1
allele frequency: 8.779631255487269e-6
allele num: 113900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-352-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-11T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-11T>C
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-117166075-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166075
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166075
    reference: chr 11
allele count: 74
allele frequency: 6.516264243320829e-4
allele num: 113562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-12T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-352-12T>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20729
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-117166076-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166076
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166076
    reference: chr 11
allele count: 1
allele frequency: 8.832829862031198e-6
allele num: 113214
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-352-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-13C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-13C>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16454
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-117166081-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166081
    reference: chr 11
allele count: 1
allele frequency: 8.966519017986838e-6
allele num: 111526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-352-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-18T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-18T>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-117166093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166093
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166093
    reference: chr 11
allele count: 1
allele frequency: 9.215230933687198e-6
allele num: 108516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-352-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-30C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-30C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-117166104-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166104
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166105
    reference: chr 11
allele count: 1
allele frequency: 9.633354526713292e-6
allele num: 103806
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-353+41dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.51-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.51-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-42dupG
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-42dupG
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-117166164-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166164
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166164
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 16694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-371T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.50+50T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.50+50T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-101T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-101T>G
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34116
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33415
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

11-117166165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166165
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166165
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 16528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.50+49T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-372T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.50+49T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-102T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-102T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-117166195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166195
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166195
    reference: chr 11
allele count: 2
allele frequency: 1.524855138761818e-4
allele num: 13116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.50+19T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-402T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.50+19T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-132T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-132T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-117166196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166196
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166196
    reference: chr 11
allele count: 1
allele frequency: 7.694675284702985e-5
allele num: 12996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.50+18T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475171
  ensembl transcript: ENST00000510915
  gene symbol: BACE1
  hgvsc: ENST00000510915.1:c.-403T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-133T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.50+18T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-117166223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166223
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166223
    reference: chr 11
allele count: 1
allele frequency: 8.260366760284156e-5
allele num: 12106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.41G>A
  hgvsp: ENSP00000422461.1:p.Cys14Tyr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.41G>A
  hgvsp: ENSP00000475405.1:p.Cys14Tyr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-160G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-160G>A
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys14Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-117166230-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166230
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166230
    reference: chr 11
allele count: 1
allele frequency: 8.379420144126027e-5
allele num: 11934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.34A>G
  hgvsp: ENSP00000422461.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.34A>G
  hgvsp: ENSP00000475405.1:p.Thr12Ala
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-167A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-167A>G
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr12Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-117166232-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166232
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166232
    reference: chr 11
allele count: 1
allele frequency: 8.379420144126027e-5
allele num: 11934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.32T>C
  hgvsp: ENSP00000475405.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-169T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.32T>C
  hgvsp: ENSP00000422461.1:p.Phe11Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-169T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe11Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

11-117166246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166246
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166246
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 11664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.18T>C
  hgvsp: ENST00000510630.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.18T>C
  hgvsp: ENST00000392937.6:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-183T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-183T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr6Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

11-117166248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166248
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166248
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 11630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.16T>C
  hgvsp: ENSP00000475405.1:p.Tyr6His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-185T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.16T>C
  hgvsp: ENSP00000422461.1:p.Tyr6His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-185T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr6His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

11-117166254-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166254
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166254
    reference: chr 11
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.10T>A
  hgvsp: ENSP00000422461.1:p.Phe4Ile
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-191T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.10T>A
  hgvsp: ENSP00000475405.1:p.Phe4Ile
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe4Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-117166261-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166261
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166261
    reference: chr 11
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.3G>C
  hgvsp: ENSP00000475405.1:p.Met1?
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.3G>C
  hgvsp: ENSP00000422461.1:p.Met1?
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-198G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-198G>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-117166275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166275
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166275
    reference: chr 11
allele count: 1
allele frequency: 8.893632159373888e-5
allele num: 11244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.-12C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-212C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-212C>A
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

11-117166277-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166277
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166277
    reference: chr 11
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.-14A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.-14A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-214A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-214A>G
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

11-117166287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166287
    reference: chr 11
allele count: 1
allele frequency: 8.997660608241857e-5
allele num: 11114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000422461
  ensembl transcript: ENST00000510630
  gene symbol: BACE1
  hgvsc: ENST00000510630.1:c.-24T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.-24T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-224T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-224T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-117166301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166301
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166301
    reference: chr 11
allele count: 2
allele frequency: 1.809627216793341e-4
allele num: 11052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.-38A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-238A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-238A>G
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

11-117166304-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117166304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117166304
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 11030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.351-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.351-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.351-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000475405
  ensembl transcript: ENST00000392937
  gene symbol: BACE1
  hgvsc: ENST00000392937.6:c.-41T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-352-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.351-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.351-241T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.351-241T>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-117167539-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167539
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167539
    reference: chr 11
allele count: 1
allele frequency: 8.506294658046955e-6
allele num: 117560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+50G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+50G>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-117167551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167551
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167551
    reference: chr 11
allele count: 10
allele frequency: 8.485074753508578e-5
allele num: 117854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+38C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+38C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-117167553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167553
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167553
    reference: chr 11
allele count: 1
allele frequency: 8.482483671218934e-6
allele num: 117890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+36T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+36T>C
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-117167556-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167556
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167556
    reference: chr 11
allele count: 1
allele frequency: 8.474576271186441e-6
allele num: 118000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+33T>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+33T>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

11-117167557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167557
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167557
    reference: chr 11
allele count: 1
allele frequency: 8.472852979055108e-6
allele num: 118024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+32C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+32C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-117167558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167558
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167558
    reference: chr 11
allele count: 1
allele frequency: 8.471417437565653e-6
allele num: 118044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+31C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+31C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-117167565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167565
    reference: chr 11
allele count: 1
allele frequency: 8.450228156160216e-6
allele num: 118340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+24G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+24G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39520
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-117167568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167568
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167568
    reference: chr 11
allele count: 1
allele frequency: 8.438533720380746e-6
allele num: 118504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+21G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+21G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-117167578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167578
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167578
    reference: chr 11
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+11G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+11G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-117167582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167582
    reference: chr 11
allele count: 10
allele frequency: 8.381808123648434e-5
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.350+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-353+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.350+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.350+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.350+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.350+7C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.350+7C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27469
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40332
  bin: 6.25e1
  variant carriers: 0
hgvs: c.350+7C>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

11-117167607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167607
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167607
    reference: chr 11
allele count: 1
allele frequency: 8.345016356232058e-6
allele num: 119832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.332G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.332G>A
  hgvsp: ENSP00000403685.2:p.Arg111His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-371G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.332G>A
  hgvsp: ENSP00000402228.2:p.Arg111His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.332G>A
  hgvsp: ENSP00000318585.6:p.Arg111His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.332G>A
  hgvsp: ENSP00000431848.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.332G>A
  hgvsp: ENSP00000424536.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg111His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

11-117167608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167608
    reference: chr 11
allele count: 3
allele frequency: 2.503045371869107e-5
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.331C>T
  hgvsp: ENSP00000424536.1:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.331C>T
  hgvsp: ENSP00000403685.2:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.331C>T
  hgvsp: ENSP00000402228.2:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.331C>T
  hgvsp: ENSP00000318585.6:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.331C>T
  hgvsp: ENSP00000431848.1:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-372C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.331C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10018
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg111Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-117167620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167620
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167620
    reference: chr 11
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-384C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.319C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.319C>T
  hgvsp: ENSP00000402228.2:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.319C>T
  hgvsp: ENSP00000318585.6:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.319C>T
  hgvsp: ENSP00000431848.1:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.319C>T
  hgvsp: ENSP00000424536.1:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.319C>T
  hgvsp: ENSP00000403685.2:p.Pro107Ser
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro107Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-117167623-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167623
    reference: chr 11
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.316C>G
  hgvsp: ENSP00000403685.2:p.His106Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.316C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-387C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.316C>G
  hgvsp: ENSP00000318585.6:p.His106Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.316C>G
  hgvsp: ENSP00000431848.1:p.His106Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.316C>G
  hgvsp: ENSP00000424536.1:p.His106Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.316C>G
  hgvsp: ENSP00000402228.2:p.His106Asp
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His106Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-117167623-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167623
    reference: chr 11
allele count: 2
allele frequency: 1.6655008160954e-5
allele num: 120084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.316C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.316C>A
  hgvsp: ENSP00000431848.1:p.His106Asn
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.316C>A
  hgvsp: ENSP00000424536.1:p.His106Asn
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.316C>A
  hgvsp: ENSP00000403685.2:p.His106Asn
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.316C>A
  hgvsp: ENSP00000402228.2:p.His106Asn
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.316C>A
  hgvsp: ENSP00000318585.6:p.His106Asn
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-387C>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His106Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-117167628-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167628
    reference: chr 11
allele count: 2
allele frequency: 1.663838141825563e-5
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.311C>A
  hgvsp: ENSP00000424536.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.311C>A
  hgvsp: ENSP00000318585.6:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-392C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.311C>A
  hgvsp: ENSP00000431848.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.311C>A
  hgvsp: ENSP00000403685.2:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.311C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.311C>A
  hgvsp: ENSP00000402228.2:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala104Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-117167629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167629
    reference: chr 11
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.310G>A
  hgvsp: ENSP00000402228.2:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.310G>A
  hgvsp: ENSP00000403685.2:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.310G>A
  hgvsp: ENSP00000424536.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.310G>A
  hgvsp: ENSP00000318585.6:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.310G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.310G>A
  hgvsp: ENSP00000431848.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-393G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala104Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

11-117167683-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167683
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167683
    reference: chr 11
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-6T>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-6T>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
hgvs: c.262-6T>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

11-117167687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167687
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167687
    reference: chr 11
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-10T>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-10T>C
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

11-117167690-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167690
    reference: chr 11
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-13C>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-13C>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-117167704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167704
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167704
    reference: chr 11
allele count: 1
allele frequency: 8.499354049092269e-6
allele num: 117656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-27G>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-27G>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-117167709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167709
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167709
    reference: chr 11
allele count: 1
allele frequency: 8.523550570225534e-6
allele num: 117322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-32A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-32A>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-117167723-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167723
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167723
    reference: chr 11
allele count: 1
allele frequency: 8.806072667711655e-6
allele num: 113558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-46G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-46G>C
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

11-117167723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167723
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167723
    reference: chr 11
allele count: 11
allele frequency: 9.686679934482819e-5
allele num: 113558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-46G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-46G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-117167724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167724
    reference: chr 11
allele count: 264
allele frequency: 2.34192037470726e-3
allele num: 112728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-47C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-47C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16239
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 8
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

11-117167724-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167724
    reference: chr 11
allele count: 2
allele frequency: 1.774182102050955e-5
allele num: 112728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-47C>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-47C>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16239
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

11-117167725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167725
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167725
    reference: chr 11
allele count: 2
allele frequency: 1.770569592237823e-5
allele num: 112958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-48C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-48C>T
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-117167729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117167729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117167729
    reference: chr 11
allele count: 1
allele frequency: 8.998470260055791e-6
allele num: 111130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-52G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-441-52G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-117170331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170331
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170331
    reference: chr 11
allele count: 1
allele frequency: 2.849002849002849e-4
allele num: 3510
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-442+33A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2654A>G
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

11-117170341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170341
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170341
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 3486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-442+23G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2664G>A
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-117170371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170371
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170371
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 4498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-449G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2694G>A
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16942
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

11-117170372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170372
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170372
    reference: chr 11
allele count: 1
allele frequency: 2.192982456140351e-4
allele num: 4560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-450C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2695C>T
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-117170386-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170386
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170386
    reference: chr 11
allele count: 1
allele frequency: 2.059308072487644e-4
allele num: 4856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-464G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2709G>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

11-117170390-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170390
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170390
    reference: chr 11
allele count: 1
allele frequency: 2.03334688897926e-4
allele num: 4918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000431848
  ensembl transcript: ENST00000528053
  gene symbol: BACE1
  hgvsc: ENST00000528053.1:c.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl transcript: ENST00000514464
  gene symbol: BACE1
  hgvsc: ENST00000514464.1:n.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000434486
  ensembl transcript: ENST00000504995
  gene symbol: BACE1
  hgvsc: ENST00000504995.1:c.-468G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2713G>C
  variant of: http://identifiers.org/hgnc/933
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-117170459-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 117170459
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 117170459
    reference: chr 11
allele count: 16
allele frequency: 7.774538386783284e-3
allele num: 2058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000403685
  ensembl transcript: ENST00000445823
  gene symbol: BACE1
  hgvsc: ENST00000445823.2:c.262-2782A>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000402228
  ensembl transcript: ENST00000428381
  gene symbol: BACE1
  hgvsc: ENST00000428381.2:c.262-2782A>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000424536
  ensembl transcript: ENST00000513780
  gene symbol: BACE1
  hgvsc: ENST00000513780.1:c.262-2782A>C
  variant of: http://identifiers.org/hgnc/933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186318
  ensembl protein: ENSP00000318585
  ensembl transcript: ENST00000313005
  gene symbol: BACE1
  hgvsc: ENST00000313005.6:c.262-2782A>C
  variant of: http://identifiers.org/hgnc/933
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6470
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.617361e6

QD
type: SiteQuality
SIO_000300: 1.447e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.638e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

GenotypeQuality
all individuals: 1679
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.239e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.6e-2

DP
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SIO_000300: 1.617374e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.946e1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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ClippingRankSum
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SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.617584e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 8.5e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.617051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

BaseQRankSum
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SIO_000300: -5.2e-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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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: 66722
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.616947e6

ReadPosRankSum
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SIO_000300: 1.45e0

BaseQRankSum
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SIO_000300: -1.461e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
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SIO_000300: 1.88e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6590
num of homozygotes: 0

East Asian
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allele count: 11
allele frequency: 1.271382339343504e-3
allele num: 8652
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
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

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

Latino
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Other
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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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African
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South Asian
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allele num: 16512
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 66686
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South Asian
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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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South Asian
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Latino
type: Population
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.613211e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 1.559e0

MQ
type: SiteQuality
SIO_000300: 5.513e1

MQRankSum
type: SiteQuality
SIO_000300: -2.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 732
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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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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: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 1.602684e6

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

FS
type: SiteQuality
SIO_000300: 4.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.475e1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
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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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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.02627455706882e-5
allele num: 66376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.602374e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 2.956e0

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45787
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1660
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 234
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 207
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variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.145e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.587953e6

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 44909
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 1842
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GenotypeQuality
all individuals: 313
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GenotypeQuality
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GenotypeQuality
all individuals: 5894
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GenotypeQuality
all individuals: 359
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GenotypeQuality
all individuals: 435
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GenotypeQuality
all individuals: 1405
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variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.062974761087969e-4
allele num: 16324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.586797841954935e-4
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 1.580251e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 4639
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variant carriers: 0

GenotypeQuality
all individuals: 1594
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GenotypeQuality
all individuals: 1706
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GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 677
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GenotypeQuality
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 35771
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GenotypeQuality
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GenotypeQuality
all individuals: 1647
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GenotypeQuality
all individuals: 1180
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GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588814744200826e-5
allele num: 62940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.2285e1

QD
type: SiteQuality
SIO_000300: 1.168e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

DP
type: SiteQuality
SIO_000300: 1.432742e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 1713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 672
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9627
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GenotypeQuality
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GenotypeQuality
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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: 74

GenotypeQuality
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 1183
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variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.047502047502048e-4
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.083527199719558e-3
allele num: 62758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.036937541974479e-4
allele num: 5956
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 1.421441e6

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
all individuals: 57
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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
all individuals: 1046
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GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.337938902268983e-5
allele num: 15778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.138999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.621e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.409597e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.268e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 1514
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GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 297
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GenotypeQuality
all individuals: 3040
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GenotypeQuality
all individuals: 2721
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GenotypeQuality
all individuals: 433
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 645
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GenotypeQuality
all individuals: 28821
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GenotypeQuality
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 1042
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GenotypeQuality
all individuals: 1094
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

African
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allele frequency: 1.037344398340249e-4
allele num: 9640
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10028
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

MQRankSum
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SIO_000300: 1.76e-1

ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.5e-3

QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60008
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9594
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African
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allele frequency: 1.058649163667161e-4
allele num: 9446
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.836e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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QD
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SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
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SIO_000300: 5.46e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 6.60763843002511e-5
allele num: 15134
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57466
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.051e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.599e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 1.066396e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

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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bin: 1.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.42509e5

GenotypeQuality
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bin: 2.5e0
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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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

DP
type: SiteQuality
SIO_000300: 4.39119e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

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

South Asian
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allele frequency: 2.619172341540073e-4
allele num: 7636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.577e0

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

South 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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Other
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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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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.731343283582089e-3
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.322051824431518e-4
allele num: 7564
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

East Asian
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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DP
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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East Asian
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African
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European (Non-Finnish)
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VQSLOD
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DP
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FS
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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Other
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East Asian
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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FS
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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African
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Other
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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African
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European (Non-Finnish)
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allele num: 64798
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QD
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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African
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Latino
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East Asian
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Other
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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Latino
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DP
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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African
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South Asian
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East Asian
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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Latino
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South Asian
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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Latino
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QD
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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East Asian
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

VQSLOD
type: SiteQuality
SIO_000300: -3.771e-1

DP
type: SiteQuality
SIO_000300: 1.674736e6

GenotypeQuality
all individuals: 1927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520958812435359e-5
allele num: 65748
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 1.666321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.871e-1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.659227e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5598
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54435384235236e-5
allele num: 64752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

DP
type: SiteQuality
SIO_000300: 1.531783e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.334e0

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.789e1

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

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.426e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 3.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e0

DP
type: SiteQuality
SIO_000300: 1.485183e6

GenotypeQuality
all individuals: 2335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3568
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5253
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.235969069593415e-5
allele num: 16036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.235453e6

GenotypeQuality
all individuals: 589
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 3519
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variant carriers: 0

GenotypeQuality
all individuals: 7062
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.235969069593415e-5
allele num: 16036
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 9.380863039399625e-4
allele num: 9594
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 1.235453e6

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 3.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 3598
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1087
bin: 9.75e1
variant carriers: 248

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11955
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 1331
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variant carriers: 1

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.249375312343828e-4
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 76
allele frequency: 1.224029634401675e-3
allele num: 62090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 179
allele frequency: 1.121132406363523e-2
allele num: 15966
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.523039307880384e-4
allele num: 10634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
type: SiteQuality
SIO_000300: 1.229435e6

GenotypeQuality
all individuals: 288
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1031
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1087
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variant carriers: 2

GenotypeQuality
all individuals: 1678
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variant carriers: 0

GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 1036
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variant carriers: 0

GenotypeQuality
all individuals: 7093
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.221130616846513e-5
allele num: 62090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.229435e6

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

GenotypeQuality
all individuals: 673
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11382
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variant carriers: 0

GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 922
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variant carriers: 2

GenotypeQuality
all individuals: 3182
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GenotypeQuality
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GenotypeQuality
all individuals: 1039
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variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.211200667929739e-5
allele num: 62282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

DP
type: SiteQuality
SIO_000300: 1.221739e6

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

GenotypeQuality
all individuals: 3535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
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variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5085
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variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
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variant carriers: 0

GenotypeQuality
all individuals: 7598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.061120543293718e-4
allele num: 9424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.118e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 1.21034e6

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4020
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.576329331046312e-4
allele num: 1166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.569e1

QD
type: SiteQuality
SIO_000300: 9.83e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.080000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.19584e5

GenotypeQuality
all individuals: 21146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 4.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 1.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

MQRankSum
type: SiteQuality
SIO_000300: -1.683e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.1336e5

GenotypeQuality
all individuals: 4087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.68e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.09611e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.124e-1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.441156228492773e-4
allele num: 2906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.468e0

VQSLOD
type: SiteQuality
SIO_000300: -3.488e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.10629e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1043
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.936507936507937e-4
allele num: 1260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.957e0

FS
type: SiteQuality
SIO_000300: 1.808e0

DP
type: SiteQuality
SIO_000300: 1.052e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

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

GenotypeQuality
all individuals: 13337
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 6.666666666666667e-3
allele num: 150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.119e0

VQSLOD
type: SiteQuality
SIO_000300: -5.235e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

DP
type: SiteQuality
SIO_000300: 1.0292e5

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.22e-2