11-70282510-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282510
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282510
    reference: chr 11
allele count: 1
allele frequency: 8.884466398948079e-6
allele num: 112556
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.1901C>G
  hgvsp: ENSP00000365745.3:p.Pro634Arg
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1242C>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.794C>G
  hgvsp: ENSP00000431421.1:p.Pro265Arg
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1242C>G
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro634Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-70282510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282510
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282510
    reference: chr 11
allele count: 4
allele frequency: 3.553786559579232e-5
allele num: 112556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.1901C>T
  hgvsp: ENSP00000365745.3:p.Pro634Leu
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1242C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.794C>T
  hgvsp: ENSP00000431421.1:p.Pro265Leu
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1242C>T
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26563
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro634Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-70282511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282511
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282511
    reference: chr 11
allele count: 2
allele frequency: 1.777019582755802e-5
allele num: 112548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1243G>A
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.795G>A
  hgvsp: ENST00000529736.1:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.1902G>A
  hgvsp: ENST00000376561.3:c.1902G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1243G>A
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26563
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro634Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-70282517-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282517
    reference: chr 11
allele count: 4
allele frequency: 3.557452863749556e-5
allele num: 112440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1249C>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*3C>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1249C>G
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26573
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

11-70282517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282517
    reference: chr 11
allele count: 12
allele frequency: 1.067235859124867e-4
allele num: 112440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*3C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1249C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1249C>T
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

11-70282518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282518
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282518
    reference: chr 11
allele count: 6
allele frequency: 5.335704757670076e-5
allele num: 112450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1250G>A
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1250G>A
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*4G>A
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26571
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

11-70282527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282527
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282527
    reference: chr 11
allele count: 2
allele frequency: 1.780848752515449e-5
allele num: 112306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*13C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1259C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1259C>T
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26573
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-70282539-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282539
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282540
    reference: chr 11
allele count: 1
allele frequency: 8.911067545891997e-6
allele num: 112220
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1275dupT
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1275dupT
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*29dupT
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*29dupT
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

11-70282539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282539
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282539
    reference: chr 11
allele count: 1
allele frequency: 8.911067545891997e-6
allele num: 112220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1271A>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1271A>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*25A>G
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

11-70282543-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282543
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282543
    reference: chr 11
allele count: 1
allele frequency: 8.913291500285225e-6
allele num: 112192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*29T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1275T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1275T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*29T>G
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26574
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-70282555-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70282555
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70282555
    reference: chr 11
allele count: 1
allele frequency: 8.929528163731828e-6
allele num: 111988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000365745
  ensembl transcript: ENST00000376561
  gene symbol: CTTN
  hgvsc: ENST00000376561.3:c.*41T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000301843
  ensembl transcript: ENST00000301843
  gene symbol: CTTN
  hgvsc: ENST00000301843.8:c.*1287T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000431421
  ensembl transcript: ENST00000529736
  gene symbol: CTTN
  hgvsc: ENST00000529736.1:c.*41T>G
  variant of: http://identifiers.org/hgnc/3338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000085733
  ensembl protein: ENSP00000317189
  ensembl transcript: ENST00000346329
  gene symbol: CTTN
  hgvsc: ENST00000346329.3:c.*1287T>G
  variant of: http://identifiers.org/hgnc/3338
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

11-70318931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318931
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318931
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*43A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*597A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*43A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*43A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10357
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

11-70318950-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318950
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318950
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*24G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*24G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*578G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*24G>C
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-70318953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318953
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318953
    reference: chr 11
allele count: 27
allele frequency: 2.223979440545616e-4
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*21G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*575G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

11-70318954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318954
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318954
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*574C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*20C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

11-70318969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318969
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*559G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*5G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

11-70318970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318970
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318970
    reference: chr 11
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*558C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.*4C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10369
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

11-70318987-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70318987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70318987
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4409T>A
  hgvsp: ENSP00000294018.4:p.Leu1470Gln
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4400T>A
  hgvsp: ENSP00000394536.2:p.Leu1467Gln
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3752T>A
  hgvsp: ENSP00000399423.2:p.Leu1251Gln
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*541T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3374T>A
  hgvsp: ENSP00000402944.1:p.Leu1125Gln
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5540T>A
  hgvsp: ENSP00000345193.4:p.Leu1847Gln
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3749T>A
  hgvsp: ENSP00000386491.1:p.Leu1250Gln
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1847Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-70319004-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319004
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319004
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3357A>C
  hgvsp: ENSP00000402944.1:p.Glu1119Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*524A>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4383A>C
  hgvsp: ENSP00000394536.2:p.Glu1461Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3735A>C
  hgvsp: ENSP00000399423.2:p.Glu1245Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4392A>C
  hgvsp: ENSP00000294018.4:p.Glu1464Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3732A>C
  hgvsp: ENSP00000386491.1:p.Glu1244Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5523A>C
  hgvsp: ENSP00000345193.4:p.Glu1841Asp
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1841Asp
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-70319010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319010
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319010
    reference: chr 11
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4377C>T
  hgvsp: ENST00000423696.2:c.4377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4386C>T
  hgvsp: ENST00000294018.4:c.4386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3351C>T
  hgvsp: ENST00000424924.1:c.3351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3729C>T
  hgvsp: ENST00000449833.2:c.3729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5517C>T
  hgvsp: ENST00000338508.4:c.5517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3726C>T
  hgvsp: ENST00000409161.1:c.3726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*518C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37115
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1839Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-70319025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319025
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319025
    reference: chr 11
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*503C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3714C>T
  hgvsp: ENST00000449833.2:c.3714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3711C>T
  hgvsp: ENST00000409161.1:c.3711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3336C>T
  hgvsp: ENST00000424924.1:c.3336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4362C>T
  hgvsp: ENST00000423696.2:c.4362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4371C>T
  hgvsp: ENST00000294018.4:c.4371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5502C>T
  hgvsp: ENST00000338508.4:c.5502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1834Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

11-70319046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319046
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319046
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3693C>T
  hgvsp: ENST00000449833.2:c.3693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3690C>T
  hgvsp: ENST00000409161.1:c.3690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4341C>T
  hgvsp: ENST00000423696.2:c.4341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3315C>T
  hgvsp: ENST00000424924.1:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4350C>T
  hgvsp: ENST00000294018.4:c.4350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*482C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5481C>T
  hgvsp: ENST00000338508.4:c.5481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile1827Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-70319055-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319055
    reference: chr 11
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3684G>C
  hgvsp: ENSP00000399423.2:p.Glu1228Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4341G>C
  hgvsp: ENSP00000294018.4:p.Glu1447Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3306G>C
  hgvsp: ENSP00000402944.1:p.Glu1102Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3681G>C
  hgvsp: ENSP00000386491.1:p.Glu1227Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5472G>C
  hgvsp: ENSP00000345193.4:p.Glu1824Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*473G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4332G>C
  hgvsp: ENSP00000394536.2:p.Glu1444Asp
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1824Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-70319067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319067
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5460C>T
  hgvsp: ENST00000338508.4:c.5460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3294C>T
  hgvsp: ENST00000424924.1:c.3294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3672C>T
  hgvsp: ENST00000449833.2:c.3672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3669C>T
  hgvsp: ENST00000409161.1:c.3669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*461C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4320C>T
  hgvsp: ENST00000423696.2:c.4320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4329C>T
  hgvsp: ENST00000294018.4:c.4329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn1820Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-70319068-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319068
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319068
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5459A>T
  hgvsp: ENSP00000345193.4:p.Asn1820Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3293A>T
  hgvsp: ENSP00000402944.1:p.Asn1098Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3671A>T
  hgvsp: ENSP00000399423.2:p.Asn1224Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3668A>T
  hgvsp: ENSP00000386491.1:p.Asn1223Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4328A>T
  hgvsp: ENSP00000294018.4:p.Asn1443Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4319A>T
  hgvsp: ENSP00000394536.2:p.Asn1440Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*460A>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1820Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-70319087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319087
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319087
    reference: chr 11
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3649G>A
  hgvsp: ENSP00000386491.1:p.Asp1217Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5440G>A
  hgvsp: ENSP00000345193.4:p.Asp1814Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3652G>A
  hgvsp: ENSP00000399423.2:p.Asp1218Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4309G>A
  hgvsp: ENSP00000294018.4:p.Asp1437Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4300G>A
  hgvsp: ENSP00000394536.2:p.Asp1434Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3274G>A
  hgvsp: ENSP00000402944.1:p.Asp1092Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*441G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp1814Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-70319088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319088
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319088
    reference: chr 11
allele count: 85
allele frequency: 7.001070751997365e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3648C>T
  hgvsp: ENST00000409161.1:c.3648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3273C>T
  hgvsp: ENST00000424924.1:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3651C>T
  hgvsp: ENST00000449833.2:c.3651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4299C>T
  hgvsp: ENST00000423696.2:c.4299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4308C>T
  hgvsp: ENST00000294018.4:c.4308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5439C>T
  hgvsp: ENST00000338508.4:c.5439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1813Ile
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-70319122-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319122
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3239G>C
  hgvsp: ENSP00000402944.1:p.Gly1080Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4265G>C
  hgvsp: ENSP00000394536.2:p.Gly1422Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3617G>C
  hgvsp: ENSP00000399423.2:p.Gly1206Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5405G>C
  hgvsp: ENSP00000345193.4:p.Gly1802Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4274G>C
  hgvsp: ENSP00000294018.4:p.Gly1425Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3614G>C
  hgvsp: ENSP00000386491.1:p.Gly1205Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*406G>C
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly1802Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-70319122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319122
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3614G>A
  hgvsp: ENSP00000386491.1:p.Gly1205Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5405G>A
  hgvsp: ENSP00000345193.4:p.Gly1802Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3617G>A
  hgvsp: ENSP00000399423.2:p.Gly1206Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4265G>A
  hgvsp: ENSP00000394536.2:p.Gly1422Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4274G>A
  hgvsp: ENSP00000294018.4:p.Gly1425Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3239G>A
  hgvsp: ENSP00000402944.1:p.Gly1080Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*406G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37206
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1802Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

11-70319130-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319130
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5397A>T
  hgvsp: ENST00000338508.4:c.5397A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4266A>T
  hgvsp: ENST00000294018.4:c.4266A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3609A>T
  hgvsp: ENST00000449833.2:c.3609A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3231A>T
  hgvsp: ENST00000424924.1:c.3231A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4257A>T
  hgvsp: ENST00000423696.2:c.4257A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3606A>T
  hgvsp: ENST00000409161.1:c.3606A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*398A>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1799Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

11-70319137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319137
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319137
    reference: chr 11
allele count: 89
allele frequency: 7.369501854795973e-4
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*391A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3599A>G
  hgvsp: ENSP00000386491.1:p.Glu1200Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4259A>G
  hgvsp: ENSP00000294018.4:p.Glu1420Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4250A>G
  hgvsp: ENSP00000394536.2:p.Glu1417Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5390A>G
  hgvsp: ENSP00000345193.4:p.Glu1797Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3224A>G
  hgvsp: ENSP00000402944.1:p.Glu1075Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3602A>G
  hgvsp: ENSP00000399423.2:p.Glu1201Gly
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 6
hgvs: p.Glu1797Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-70319148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319148
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319148
    reference: chr 11
allele count: 17
allele frequency: 1.400214150399473e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5379C>T
  hgvsp: ENST00000338508.4:c.5379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3588C>T
  hgvsp: ENST00000409161.1:c.3588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3213C>T
  hgvsp: ENST00000424924.1:c.3213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4248C>T
  hgvsp: ENST00000294018.4:c.4248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3591C>T
  hgvsp: ENST00000449833.2:c.3591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4239C>T
  hgvsp: ENST00000423696.2:c.4239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*380C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1793Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

11-70319169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319169
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319169
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4227G>A
  hgvsp: ENST00000294018.4:c.4227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4218G>A
  hgvsp: ENST00000423696.2:c.4218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3567G>A
  hgvsp: ENST00000409161.1:c.3567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3192G>A
  hgvsp: ENST00000424924.1:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3570G>A
  hgvsp: ENST00000449833.2:c.3570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5358G>A
  hgvsp: ENST00000338508.4:c.5358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1786Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

11-70319175-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319175
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319175
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*353C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4212C>A
  hgvsp: ENST00000423696.2:c.4212C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3186C>A
  hgvsp: ENST00000424924.1:c.3186C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3561C>A
  hgvsp: ENST00000409161.1:c.3561C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3564C>A
  hgvsp: ENST00000449833.2:c.3564C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4221C>A
  hgvsp: ENST00000294018.4:c.4221C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5352C>A
  hgvsp: ENST00000338508.4:c.5352C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1784Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-70319195-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319195
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319195
    reference: chr 11
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3166C>G
  hgvsp: ENSP00000402944.1:p.Pro1056Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4201C>G
  hgvsp: ENSP00000294018.4:p.Pro1401Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*333C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4192C>G
  hgvsp: ENSP00000394536.2:p.Pro1398Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3544C>G
  hgvsp: ENSP00000399423.2:p.Pro1182Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3541C>G
  hgvsp: ENSP00000386491.1:p.Pro1181Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5332C>G
  hgvsp: ENSP00000345193.4:p.Pro1778Ala
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1778Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

11-70319201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319201
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319201
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3160A>G
  hgvsp: ENSP00000402944.1:p.Asn1054Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3538A>G
  hgvsp: ENSP00000399423.2:p.Asn1180Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*327A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4186A>G
  hgvsp: ENSP00000394536.2:p.Asn1396Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4195A>G
  hgvsp: ENSP00000294018.4:p.Asn1399Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5326A>G
  hgvsp: ENSP00000345193.4:p.Asn1776Asp
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3535A>G
  hgvsp: ENSP00000386491.1:p.Asn1179Asp
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn1776Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

11-70319207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319207
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319207
    reference: chr 11
allele count: 10
allele frequency: 8.236553825879252e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3154A>G
  hgvsp: ENSP00000402944.1:p.Ile1052Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4189A>G
  hgvsp: ENSP00000294018.4:p.Ile1397Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3529A>G
  hgvsp: ENSP00000386491.1:p.Ile1177Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*321A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3532A>G
  hgvsp: ENSP00000399423.2:p.Ile1178Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5320A>G
  hgvsp: ENSP00000345193.4:p.Ile1774Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4180A>G
  hgvsp: ENSP00000394536.2:p.Ile1394Val
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1774Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-70319210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319210
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319210
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3526C>T
  hgvsp: ENSP00000386491.1:p.Pro1176Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4177C>T
  hgvsp: ENSP00000394536.2:p.Pro1393Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4186C>T
  hgvsp: ENSP00000294018.4:p.Pro1396Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3529C>T
  hgvsp: ENSP00000399423.2:p.Pro1177Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*318C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3151C>T
  hgvsp: ENSP00000402944.1:p.Pro1051Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5317C>T
  hgvsp: ENSP00000345193.4:p.Pro1773Ser
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1773Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

11-70319213-GTTGCAGTATCGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319201
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsp: ENSP00000394536.2:p.Ser1388_Gln1391del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsp: ENSP00000386491.1:p.Ser1171_Gln1174del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsp: ENSP00000294018.4:p.Ser1391_Gln1394del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsp: ENSP00000399423.2:p.Ser1172_Gln1175del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsp: ENSP00000345193.4:p.Ser1768_Gln1771del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsp: ENSP00000402944.1:p.Ser1046_Gln1049del
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1768_Gln1771del
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: GTTGCAGTATCGA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

11-70319214-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319214
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319214
    reference: chr 11
allele count: 134
allele frequency: 1.12455731046174e-3
allele num: 119158
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5313A>C
  hgvsp: ENSP00000345193.4:p.Gln1771His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3147A>C
  hgvsp: ENSP00000402944.1:p.Gln1049His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3522A>C
  hgvsp: ENSP00000386491.1:p.Gln1174His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3525A>C
  hgvsp: ENSP00000399423.2:p.Gln1175His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4173A>C
  hgvsp: ENSP00000394536.2:p.Gln1391His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*314A>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4182A>C
  hgvsp: ENSP00000294018.4:p.Gln1394His
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 37398
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10431
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 5
hgvs: p.Gln1771His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-70319218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319218
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319218
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4169T>C
  hgvsp: ENSP00000394536.2:p.Leu1390Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4178T>C
  hgvsp: ENSP00000294018.4:p.Leu1393Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5309T>C
  hgvsp: ENSP00000345193.4:p.Leu1770Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3518T>C
  hgvsp: ENSP00000386491.1:p.Leu1173Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3521T>C
  hgvsp: ENSP00000399423.2:p.Leu1174Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3143T>C
  hgvsp: ENSP00000402944.1:p.Leu1048Pro
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*310T>C
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1770Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/11-70319218-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319218
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319218
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4169T>G
  hgvsp: ENSP00000394536.2:p.Leu1390Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4178T>G
  hgvsp: ENSP00000294018.4:p.Leu1393Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3518T>G
  hgvsp: ENSP00000386491.1:p.Leu1173Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3521T>G
  hgvsp: ENSP00000399423.2:p.Leu1174Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5309T>G
  hgvsp: ENSP00000345193.4:p.Leu1770Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*310T>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3143T>G
  hgvsp: ENSP00000402944.1:p.Leu1048Arg
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10768
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1770Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

11-70319223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319223
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319223
    reference: chr 11
allele count: 281
allele frequency: 2.314738541632344e-3
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3513G>A
  hgvsp: ENST00000409161.1:c.3513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3138G>A
  hgvsp: ENST00000424924.1:c.3138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3516G>A
  hgvsp: ENST00000449833.2:c.3516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4164G>A
  hgvsp: ENST00000423696.2:c.4164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5304G>A
  hgvsp: ENST00000338508.4:c.5304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4173G>A
  hgvsp: ENST00000294018.4:c.4173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1768Ser
num of homozygotes: 7
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-70319224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319224
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319224
    reference: chr 11
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3512C>T
  hgvsp: ENSP00000386491.1:p.Ser1171Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4163C>T
  hgvsp: ENSP00000394536.2:p.Ser1388Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3137C>T
  hgvsp: ENSP00000402944.1:p.Ser1046Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3515C>T
  hgvsp: ENSP00000399423.2:p.Ser1172Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*304C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5303C>T
  hgvsp: ENSP00000345193.4:p.Ser1768Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4172C>T
  hgvsp: ENSP00000294018.4:p.Ser1391Leu
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1768Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

11-70319235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319235
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319235
    reference: chr 11
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3504G>A
  hgvsp: ENST00000449833.2:c.3504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3126G>A
  hgvsp: ENST00000424924.1:c.3126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*293G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5292G>A
  hgvsp: ENST00000338508.4:c.5292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3501G>A
  hgvsp: ENST00000409161.1:c.3501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4152G>A
  hgvsp: ENST00000423696.2:c.4152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4161G>A
  hgvsp: ENST00000294018.4:c.4161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1764Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-70319239-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319239
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319239
    reference: chr 11
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3497G>C
  hgvsp: ENSP00000386491.1:p.Arg1166Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4157G>C
  hgvsp: ENSP00000294018.4:p.Arg1386Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3500G>C
  hgvsp: ENSP00000399423.2:p.Arg1167Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4148G>C
  hgvsp: ENSP00000394536.2:p.Arg1383Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5288G>C
  hgvsp: ENSP00000345193.4:p.Arg1763Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*289G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3122G>C
  hgvsp: ENSP00000402944.1:p.Arg1041Thr
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1763Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

11-70319244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319244
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319244
    reference: chr 11
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4143C>T
  hgvsp: ENST00000423696.2:c.4143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3495C>T
  hgvsp: ENST00000449833.2:c.3495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3117C>T
  hgvsp: ENST00000424924.1:c.3117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5283C>T
  hgvsp: ENST00000338508.4:c.5283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4152C>T
  hgvsp: ENST00000294018.4:c.4152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3492C>T
  hgvsp: ENST00000409161.1:c.3492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1761Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

11-70319245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319245
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319245
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3116G>A
  hgvsp: ENSP00000402944.1:p.Arg1039His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3494G>A
  hgvsp: ENSP00000399423.2:p.Arg1165His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5282G>A
  hgvsp: ENSP00000345193.4:p.Arg1761His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4142G>A
  hgvsp: ENSP00000394536.2:p.Arg1381His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3491G>A
  hgvsp: ENSP00000386491.1:p.Arg1164His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4151G>A
  hgvsp: ENSP00000294018.4:p.Arg1384His
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1761His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

11-70319250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319250
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319250
    reference: chr 11
allele count: 30
allele frequency: 2.472147142197903e-4
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5277G>A
  hgvsp: ENST00000338508.4:c.5277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3489G>A
  hgvsp: ENST00000449833.2:c.3489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3111G>A
  hgvsp: ENST00000424924.1:c.3111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3486G>A
  hgvsp: ENST00000409161.1:c.3486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4137G>A
  hgvsp: ENST00000423696.2:c.4137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4146G>A
  hgvsp: ENST00000294018.4:c.4146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10782
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1759Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

11-70319251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319251
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319251
    reference: chr 11
allele count: 5
allele frequency: 4.120313143798929e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4136C>T
  hgvsp: ENSP00000394536.2:p.Ala1379Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3488C>T
  hgvsp: ENSP00000399423.2:p.Ala1163Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3110C>T
  hgvsp: ENSP00000402944.1:p.Ala1037Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3485C>T
  hgvsp: ENSP00000386491.1:p.Ala1162Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4145C>T
  hgvsp: ENSP00000294018.4:p.Ala1382Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5276C>T
  hgvsp: ENSP00000345193.4:p.Ala1759Val
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1759Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-70319255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319255
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319255
    reference: chr 11
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4132C>T
  hgvsp: ENSP00000394536.2:p.Pro1378Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4141C>T
  hgvsp: ENSP00000294018.4:p.Pro1381Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3481C>T
  hgvsp: ENSP00000386491.1:p.Pro1161Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3106C>T
  hgvsp: ENSP00000402944.1:p.Pro1036Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5272C>T
  hgvsp: ENSP00000345193.4:p.Pro1758Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3484C>T
  hgvsp: ENSP00000399423.2:p.Pro1162Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1758Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

11-70319266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319266
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319266
    reference: chr 11
allele count: 12
allele frequency: 9.890707680134513e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3473T>C
  hgvsp: ENSP00000399423.2:p.Phe1158Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*262T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4130T>C
  hgvsp: ENSP00000294018.4:p.Phe1377Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3470T>C
  hgvsp: ENSP00000386491.1:p.Phe1157Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4121T>C
  hgvsp: ENSP00000394536.2:p.Phe1374Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5261T>C
  hgvsp: ENSP00000345193.4:p.Phe1754Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3095T>C
  hgvsp: ENSP00000402944.1:p.Phe1032Ser
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1754Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-70319273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319273
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319273
    reference: chr 11
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3466G>A
  hgvsp: ENSP00000399423.2:p.Asp1156Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3463G>A
  hgvsp: ENSP00000386491.1:p.Asp1155Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4114G>A
  hgvsp: ENSP00000394536.2:p.Asp1372Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*255G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5254G>A
  hgvsp: ENSP00000345193.4:p.Asp1752Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4123G>A
  hgvsp: ENSP00000294018.4:p.Asp1375Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3088G>A
  hgvsp: ENSP00000402944.1:p.Asp1030Asn
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1752Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-70319274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319274
    reference: chr 11
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3465G>A
  hgvsp: ENST00000449833.2:c.3465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5253G>A
  hgvsp: ENST00000338508.4:c.5253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3462G>A
  hgvsp: ENST00000409161.1:c.3462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4113G>A
  hgvsp: ENST00000423696.2:c.4113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4122G>A
  hgvsp: ENST00000294018.4:c.4122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3087G>A
  hgvsp: ENST00000424924.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1751Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

11-70319282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319282
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319282
    reference: chr 11
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4105C>T
  hgvsp: ENSP00000394536.2:p.Pro1369Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3457C>T
  hgvsp: ENSP00000399423.2:p.Pro1153Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5245C>T
  hgvsp: ENSP00000345193.4:p.Pro1749Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3454C>T
  hgvsp: ENSP00000386491.1:p.Pro1152Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3079C>T
  hgvsp: ENSP00000402944.1:p.Pro1027Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4114C>T
  hgvsp: ENSP00000294018.4:p.Pro1372Ser
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1749Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

11-70319282-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319282
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319282
    reference: chr 11
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*246C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3079C>G
  hgvsp: ENSP00000402944.1:p.Pro1027Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3454C>G
  hgvsp: ENSP00000386491.1:p.Pro1152Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5245C>G
  hgvsp: ENSP00000345193.4:p.Pro1749Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3457C>G
  hgvsp: ENSP00000399423.2:p.Pro1153Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4105C>G
  hgvsp: ENSP00000394536.2:p.Pro1369Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4114C>G
  hgvsp: ENSP00000294018.4:p.Pro1372Ala
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1749Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-70319283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319283
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319283
    reference: chr 11
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3456C>T
  hgvsp: ENST00000449833.2:c.3456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4113C>T
  hgvsp: ENST00000294018.4:c.4113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3078C>T
  hgvsp: ENST00000424924.1:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4104C>T
  hgvsp: ENST00000423696.2:c.4104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5244C>T
  hgvsp: ENST00000338508.4:c.5244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3453C>T
  hgvsp: ENST00000409161.1:c.3453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1748Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-70319283-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319283
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319283
    reference: chr 11
allele count: 4
allele frequency: 3.297881111385935e-5
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5244C>G
  hgvsp: ENST00000338508.4:c.5244C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3453C>G
  hgvsp: ENST00000409161.1:c.3453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3078C>G
  hgvsp: ENST00000424924.1:c.3078C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*245C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4104C>G
  hgvsp: ENST00000423696.2:c.4104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4113C>G
  hgvsp: ENST00000294018.4:c.4113C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3456C>G
  hgvsp: ENST00000449833.2:c.3456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10684
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1748Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

11-70319287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319287
    reference: chr 11
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3074A>G
  hgvsp: ENSP00000402944.1:p.Gln1025Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3449A>G
  hgvsp: ENSP00000386491.1:p.Gln1150Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5240A>G
  hgvsp: ENSP00000345193.4:p.Gln1747Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4109A>G
  hgvsp: ENSP00000294018.4:p.Gln1370Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4100A>G
  hgvsp: ENSP00000394536.2:p.Gln1367Arg
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3452A>G
  hgvsp: ENSP00000399423.2:p.Gln1151Arg
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1747Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-70319306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319306
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319306
    reference: chr 11
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3430G>A
  hgvsp: ENSP00000386491.1:p.Val1144Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4090G>A
  hgvsp: ENSP00000294018.4:p.Val1364Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3055G>A
  hgvsp: ENSP00000402944.1:p.Val1019Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4081G>A
  hgvsp: ENSP00000394536.2:p.Val1361Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5221G>A
  hgvsp: ENSP00000345193.4:p.Val1741Ile
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3433G>A
  hgvsp: ENSP00000399423.2:p.Val1145Ile
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val1741Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

11-70319317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319317
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319317
    reference: chr 11
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4070C>T
  hgvsp: ENSP00000394536.2:p.Ala1357Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3044C>T
  hgvsp: ENSP00000402944.1:p.Ala1015Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4079C>T
  hgvsp: ENSP00000294018.4:p.Ala1360Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3419C>T
  hgvsp: ENSP00000386491.1:p.Ala1140Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3422C>T
  hgvsp: ENSP00000399423.2:p.Ala1141Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5210C>T
  hgvsp: ENSP00000345193.4:p.Ala1737Val
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1737Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-70319318-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319318
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319318
    reference: chr 11
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4069G>T
  hgvsp: ENSP00000394536.2:p.Ala1357Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3418G>T
  hgvsp: ENSP00000386491.1:p.Ala1140Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3421G>T
  hgvsp: ENSP00000399423.2:p.Ala1141Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5209G>T
  hgvsp: ENSP00000345193.4:p.Ala1737Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4078G>T
  hgvsp: ENSP00000294018.4:p.Ala1360Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*210G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3043G>T
  hgvsp: ENSP00000402944.1:p.Ala1015Ser
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1737Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-70319318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319318
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319318
    reference: chr 11
allele count: 2
allele frequency: 1.651554938975045e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5209G>A
  hgvsp: ENSP00000345193.4:p.Ala1737Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4069G>A
  hgvsp: ENSP00000394536.2:p.Ala1357Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4078G>A
  hgvsp: ENSP00000294018.4:p.Ala1360Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3418G>A
  hgvsp: ENSP00000386491.1:p.Ala1140Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*210G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3043G>A
  hgvsp: ENSP00000402944.1:p.Ala1015Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3421G>A
  hgvsp: ENSP00000399423.2:p.Ala1141Thr
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1737Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-70319319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319319
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319319
    reference: chr 11
allele count: 4
allele frequency: 3.300711303285858e-5
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3417C>T
  hgvsp: ENST00000409161.1:c.3417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4068C>T
  hgvsp: ENST00000423696.2:c.4068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3420C>T
  hgvsp: ENST00000449833.2:c.3420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3042C>T
  hgvsp: ENST00000424924.1:c.3042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5208C>T
  hgvsp: ENST00000338508.4:c.5208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4077C>T
  hgvsp: ENST00000294018.4:c.4077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29299
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1736Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-70319321-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319321
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319318
    reference: chr 11
allele count: 7
allele frequency: 5.775672865888876e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3415_3417delTCT
  hgvsp: ENSP00000399423.2:p.Ser1139del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4063_4065delTCT
  hgvsp: ENSP00000394536.2:p.Ser1355del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5203_5205delTCT
  hgvsp: ENSP00000345193.4:p.Ser1735del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3037_3039delTCT
  hgvsp: ENSP00000402944.1:p.Ser1013del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*204_*206delTCT
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3412_3414delTCT
  hgvsp: ENSP00000386491.1:p.Ser1138del
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4072_4074delTCT
  hgvsp: ENSP00000294018.4:p.Ser1358del
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1735del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: GAGA
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

11-70319326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319326
    reference: chr 11
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3410C>T
  hgvsp: ENSP00000386491.1:p.Pro1137Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4070C>T
  hgvsp: ENSP00000294018.4:p.Pro1357Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4061C>T
  hgvsp: ENSP00000394536.2:p.Pro1354Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3035C>T
  hgvsp: ENSP00000402944.1:p.Pro1012Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3413C>T
  hgvsp: ENSP00000399423.2:p.Pro1138Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5201C>T
  hgvsp: ENSP00000345193.4:p.Pro1734Leu
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1734Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-70319329-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319329
    reference: chr 11
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3410C>A
  hgvsp: ENSP00000399423.2:p.Ser1137Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3032C>A
  hgvsp: ENSP00000402944.1:p.Ser1011Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*199C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5198C>A
  hgvsp: ENSP00000345193.4:p.Ser1733Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3407C>A
  hgvsp: ENSP00000386491.1:p.Ser1136Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4058C>A
  hgvsp: ENSP00000394536.2:p.Ser1353Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4067C>A
  hgvsp: ENSP00000294018.4:p.Ser1356Tyr
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1733Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-70319334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319334
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319334
    reference: chr 11
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5193C>T
  hgvsp: ENST00000338508.4:c.5193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4062C>T
  hgvsp: ENST00000294018.4:c.4062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3402C>T
  hgvsp: ENST00000409161.1:c.3402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3027C>T
  hgvsp: ENST00000424924.1:c.3027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4053C>T
  hgvsp: ENST00000423696.2:c.4053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3405C>T
  hgvsp: ENST00000449833.2:c.3405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*194C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1731Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-70319339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319339
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319339
    reference: chr 11
allele count: 21
allele frequency: 1.739562624254473e-4
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4057G>A
  hgvsp: ENSP00000294018.4:p.Ala1353Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3397G>A
  hgvsp: ENSP00000386491.1:p.Ala1133Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5188G>A
  hgvsp: ENSP00000345193.4:p.Ala1730Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3022G>A
  hgvsp: ENSP00000402944.1:p.Ala1008Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3400G>A
  hgvsp: ENSP00000399423.2:p.Ala1134Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4048G>A
  hgvsp: ENSP00000394536.2:p.Ala1350Thr
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1730Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

11-70319342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319342
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319342
    reference: chr 11
allele count: 5
allele frequency: 4.141747154619705e-5
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3019G>A
  hgvsp: ENSP00000402944.1:p.Ala1007Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5185G>A
  hgvsp: ENSP00000345193.4:p.Ala1729Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3397G>A
  hgvsp: ENSP00000399423.2:p.Ala1133Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4045G>A
  hgvsp: ENSP00000394536.2:p.Ala1349Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3394G>A
  hgvsp: ENSP00000386491.1:p.Ala1132Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4054G>A
  hgvsp: ENSP00000294018.4:p.Ala1352Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1729Thr
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: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-70319348-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319348
    reference: chr 11
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4048C>A
  hgvsp: ENSP00000294018.4:p.Leu1350Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3391C>A
  hgvsp: ENSP00000399423.2:p.Leu1131Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3013C>A
  hgvsp: ENSP00000402944.1:p.Leu1005Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*180C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4039C>A
  hgvsp: ENSP00000394536.2:p.Leu1347Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5179C>A
  hgvsp: ENSP00000345193.4:p.Leu1727Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3388C>A
  hgvsp: ENSP00000386491.1:p.Leu1130Met
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1727Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

11-70319349-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70319349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70319349
    reference: chr 11
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.3387C>A
  hgvsp: ENST00000409161.1:c.3387C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000402944
  ensembl transcript: ENST00000424924
  gene symbol: SHANK2
  hgvsc: ENST00000424924.1:c.3012C>A
  hgvsp: ENST00000424924.1:c.3012C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000414876
  ensembl transcript: ENST00000412252
  gene symbol: SHANK2
  hgvsc: ENST00000412252.1:c.*179C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.4047C>A
  hgvsp: ENST00000294018.4:c.4047C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.4038C>A
  hgvsp: ENST00000423696.2:c.4038C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.5178C>A
  hgvsp: ENST00000338508.4:c.5178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3390C>A
  hgvsp: ENST00000449833.2:c.3390C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1726Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630417060684123e-5
allele num: 61334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

DP
type: SiteQuality
SIO_000300: 2.10496e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 2415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.761493746697199e-4
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.260834121368246e-5
allele num: 61334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.10496e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.260940455227288e-5
allele num: 61332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 4.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.915e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 2.104487e6

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.52635013868494e-5
allele num: 61290
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 2.102613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26573
bin: 9.75e1
variant carriers: 12

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.761493746697199e-4
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.617977528089888e-4
allele num: 16020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631587534671235e-5
allele num: 61290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 1.162e1

DP
type: SiteQuality
SIO_000300: 2.102613e6

GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.52635013868494e-5
allele num: 61290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.761493746697199e-4
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.102736e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 2523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.255808112520407e-4
allele num: 15926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.374e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.659e-1

DP
type: SiteQuality
SIO_000300: 2.096234e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.785e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.49e0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

FS
type: SiteQuality
SIO_000300: 8.254e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.087226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 6919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.087226e6

FS
type: SiteQuality
SIO_000300: 8.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2523
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.633613225732675e-5
allele num: 61214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: -2.69e0

FS
type: SiteQuality
SIO_000300: 1.6551e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.084289e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

GenotypeQuality
all individuals: 3540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.81057268722467e-5
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 2.077441e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.42e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

DP
type: SiteQuality
SIO_000300: 1.941622e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.581e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.442e0

QD
type: SiteQuality
SIO_000300: 1.16e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.94215e6

QD
type: SiteQuality
SIO_000300: 1.644e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.596367668654659e-4
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.943722e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: -1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 4.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.940802e6

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

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

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

GenotypeQuality
all individuals: 1473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2926
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.833e0

VQSLOD
type: SiteQuality
SIO_000300: -3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.940862e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

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

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

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.940921e6

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 1.543e0

QD
type: SiteQuality
SIO_000300: 1.429e1

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

GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1472
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10373
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

FS
type: SiteQuality
SIO_000300: 2.837e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.940874e6

GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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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
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 6.55e-1

DP
type: SiteQuality
SIO_000300: 1.940722e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.586e1

GenotypeQuality
all individuals: 2925
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4673
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.94113e6

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.863e0

InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
all individuals: 628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.482e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 1.940613e6

GenotypeQuality
all individuals: 37126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

DP
type: SiteQuality
SIO_000300: 1.940387e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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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: 2.75e1
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GenotypeQuality
all individuals: 3
bin: 3.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198681450404555e-4
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.078e0

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.939999e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.939772e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

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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variant carriers: 0

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

Other
type: Population
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
allele num: 6614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.939911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37153
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 82
allele frequency: 7.880069190851432e-3
allele num: 10406
num of homozygotes: 1

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

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

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

DP
type: SiteQuality
SIO_000300: 1.948843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.92e0

DP
type: SiteQuality
SIO_000300: 1.936563e6

FS
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-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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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 908
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

African
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.936522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

FS
type: SiteQuality
SIO_000300: 2.887e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
all individuals: 1469
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2921
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variant carriers: 5

GenotypeQuality
all individuals: 2834
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variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.680954245609808e-4
allele num: 66398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 2.916794596254222e-3
allele num: 6514
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
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East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.464557703573521e-3
allele num: 10242
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.80635e2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.960293e6

ReadPosRankSum
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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East Asian
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African
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South Asian
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Latino
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Other
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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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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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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FS
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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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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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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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 (Finnish)
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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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Other
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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QD
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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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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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Other
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Other
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Latino
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QD
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InbreedingCoeff
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MQ
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FS
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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Other
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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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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African
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South Asian
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Other
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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MQ
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FS
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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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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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QD
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FS
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
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SIO_000300: 5.957e1

MQRankSum
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SIO_000300: 7.6e-2

ClippingRankSum
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SIO_000300: 3.93e-1

DP
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SIO_000300: 1.834684e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 8.168899999999999e1

VQSLOD
type: SiteQuality
SIO_000300: -3.225e1

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.957e1

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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Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 278
allele frequency: 1.683624031007752e-2
allele num: 16512
num of homozygotes: 7

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.351e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.864e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

VQSLOD
type: SiteQuality
SIO_000300: -5.373e1

DP
type: SiteQuality
SIO_000300: 1.822441e6

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 1.132e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.82033e6

GenotypeQuality
all individuals: 13
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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: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.004e0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.818795e6

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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FS
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

African
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Other
type: Population
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allele num: 906
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South Asian
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
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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Other
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South Asian
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allele num: 16508
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Latino
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European (Non-Finnish)
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allele frequency: 4.046641287731183e-4
allele num: 66722
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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African
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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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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GenotypeQuality
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variant carriers: 5

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

African
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allele count: 0
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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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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

Latino
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 904
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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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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bin: 7.75e1
variant carriers: 0

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

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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QD
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SIO_000300: 1.399e1

ReadPosRankSum
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SIO_000300: 5.1e-1

ClippingRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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SIO_000300: 1.84e0

BaseQRankSum
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SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.0e-4

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 12
allele frequency: 1.798884691491275e-4
allele num: 66708
num of homozygotes: 0

BaseQRankSum
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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SIO_000300: 1.458e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

QD
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.894e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
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SIO_000300: 1.811312e6

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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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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VQSLOD
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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SIO_000300: -7.26e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

South Asian
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allele frequency: 1.21197430614471e-4
allele num: 16502
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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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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variant carriers: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

DP
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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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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Other
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 4.805e0

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.797902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.481e1

VQSLOD
type: SiteQuality
SIO_000300: -2.845e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.792287e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 3.243e0

DP
type: SiteQuality
SIO_000300: 1.792284e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.204e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

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

East Asian
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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: 16398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.792284e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 3.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

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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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215657670799903e-4
allele num: 16452
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.791435e6

VQSLOD
type: SiteQuality
SIO_000300: -6.248e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 1475
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050703971661013e-4
allele num: 66622
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 1.759e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.790713e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

MQ
type: SiteQuality
SIO_000300: 5.73e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 7.55e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.787231e6

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
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South Asian
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allele count: 0
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allele num: 16452
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Other
type: Population
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allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: -5.877e-1

MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10368
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
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East Asian
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allele frequency: 3.467406380027739e-4
allele num: 8652
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Other
type: Population
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allele num: 900
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DP
type: SiteQuality
SIO_000300: 1.784202e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele count: 16
allele frequency: 2.411091018685955e-4
allele num: 66360
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: 6568
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African
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Other
type: Population
allele count: 0
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allele num: 896
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Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.246e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 1444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2819
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.78168362627197e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.777233e6

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 4.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.489e0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

QD
type: SiteQuality
SIO_000300: 8.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

VQSLOD
type: SiteQuality
SIO_000300: -4.804e-1

FS
type: SiteQuality
SIO_000300: 1.775e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.759428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.75959e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.989e0

FS
type: SiteQuality
SIO_000300: 3.398e0