11-70507868-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507868
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507868
    reference: chr 11
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-85T>A
  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.5T>A
  hgvsp: ENSP00000399423.2:p.Met2Lys
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-85T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000387324
  ensembl transcript: ENST00000409530
  gene symbol: SHANK2
  hgvsc: ENST00000409530.1:c.2T>A
  hgvsp: ENSP00000387324.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-85T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-85T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000386491
  ensembl transcript: ENST00000409161
  gene symbol: SHANK2
  hgvsc: ENST00000409161.1:c.2T>A
  hgvsp: ENSP00000386491.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-85T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.5T>A
  hgvsp: ENSP00000394939.2:p.Met2Lys
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.5T>A
  hgvsp: ENSP00000349694.3:p.Met2Lys
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

11-70507870-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507870
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507870
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-87G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-87G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.3G>C
  hgvsp: ENSP00000394939.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-87G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-87G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-87G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.3G>C
  hgvsp: ENSP00000349694.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3G>C
  hgvsp: ENSP00000399423.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34403
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-70507870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507870
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507870
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-87G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-87G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-87G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.3G>A
  hgvsp: ENSP00000394939.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.3G>A
  hgvsp: ENSP00000399423.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-87G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-87G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.3G>A
  hgvsp: ENSP00000349694.3:p.Met1?
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-70507876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507876
    reference: chr 11
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-93G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-93G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-93G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-93G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-93G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

11-70507878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507878
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507878
    reference: chr 11
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-6T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-95T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-95T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-6T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-95T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-95T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-6T>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-95T>C
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

11-70507883-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507883
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507883
    reference: chr 11
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-11A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-100A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-100A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-100A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-100A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-100A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-11A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-11A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-70507884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507884
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507884
    reference: chr 11
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-101G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-101G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-101G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-101G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-12G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-12G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-12G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-101G>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

11-70507886-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507886
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507886
    reference: chr 11
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-103G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-103G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-103G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-14G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-103G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-14G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-14G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-103G>C
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34402
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS

11-70507894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507894
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507894
    reference: chr 11
allele count: 20
allele frequency: 1.649838315845047e-4
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-111G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-111G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-111G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-111G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-111G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34403
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS

11-70507897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507897
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507897
    reference: chr 11
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-114G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-114G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-25G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-114G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-25G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-25G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-114G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-114G>C
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-70507905-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507905
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507905
    reference: chr 11
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-122C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-122C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-33C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-33C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-122C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-122C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-122C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-70507905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507905
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507905
    reference: chr 11
allele count: 13
allele frequency: 1.072890532153704e-4
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-122C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-122C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-122C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-122C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-122C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

11-70507913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507913
    reference: chr 11
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-130C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-130C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-130C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-130C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-130C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

11-70507915-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507915
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507916
    reference: chr 11
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-133dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-133dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-133dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-44dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-44dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-133dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-44dupC
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-133dupC
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-70507916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507916
    reference: chr 11
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-133C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-133C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-133C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-133C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-133C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-44C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

11-70507921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507921
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507921
    reference: chr 11
allele count: 2
allele frequency: 1.652291728627607e-5
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-138C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-138C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-138C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-138C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-138C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-49C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34402
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-70507922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70507922
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70507922
    reference: chr 11
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.264-139C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.83-139C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394939
  ensembl transcript: ENST00000449116
  gene symbol: SHANK2
  hgvsc: ENST00000449116.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000399423
  ensembl transcript: ENST00000449833
  gene symbol: SHANK2
  hgvsc: ENST00000449833.2:c.-50C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000349694
  ensembl transcript: ENST00000357171
  gene symbol: SHANK2
  hgvsc: ENST00000357171.3:c.-50C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.717-139C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.747-139C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1857-139C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

11-70544750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544750
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544750
    reference: chr 11
allele count: 1
allele frequency: 4.604051565377532e-5
allele num: 21720
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1856+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.746+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.970+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.328+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.716+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.263+43C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.82+43C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

11-70544784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544784
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544784
    reference: chr 11
allele count: 4
allele frequency: 1.84212950170397e-4
allele num: 21714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.263+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.716+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1856+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.970+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.746+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.82+9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.328+9C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

11-70544786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544786
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544786
    reference: chr 11
allele count: 1
allele frequency: 4.605323754259925e-5
allele num: 21714
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1856+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.263+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.82+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.970+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.746+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.328+7C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.716+7C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1856+7C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-70544800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544800
    reference: chr 11
allele count: 7
allele frequency: 3.222539361016481e-4
allele num: 21722
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.709A>G
  hgvsp: ENSP00000394536.2:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.321A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.963A>G
  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.1849A>G
  hgvsp: ENSP00000345193.4:p.Thr617Ala
  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.739A>G
  hgvsp: ENSP00000294018.4:p.Thr247Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.75A>G
  hgvsp: ENSP00000391570.1:p.Thr26Ala
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.256A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr617Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

11-70544803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544803
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544803
    reference: chr 11
allele count: 3
allele frequency: 1.381088297578492e-4
allele num: 21722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.706G>A
  hgvsp: ENSP00000394536.2:p.Asp236Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.318G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.72G>A
  hgvsp: ENSP00000391570.1:p.Asp25Asn
  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.736G>A
  hgvsp: ENSP00000294018.4:p.Asp246Asn
  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.1846G>A
  hgvsp: ENSP00000345193.4:p.Asp616Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.960G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.253G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp616Asn
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-70544814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544814
    reference: chr 11
allele count: 1
allele frequency: 4.603627658594973e-5
allele num: 21722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.242A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.949A>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.695A>G
  hgvsp: ENSP00000394536.2:p.Tyr232Cys
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.307A>G
  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.1835A>G
  hgvsp: ENSP00000345193.4:p.Tyr612Cys
  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.725A>G
  hgvsp: ENSP00000294018.4:p.Tyr242Cys
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.61A>G
  hgvsp: ENSP00000391570.1:p.Tyr21Cys
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr612Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-70544817-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544817
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544817
    reference: chr 11
allele count: 1
allele frequency: 4.604051565377532e-5
allele num: 21720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.58C>A
  hgvsp: ENSP00000391570.1:p.Ser20Tyr
  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.722C>A
  hgvsp: ENSP00000294018.4:p.Ser241Tyr
  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.1832C>A
  hgvsp: ENSP00000345193.4:p.Ser611Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.239C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.946C>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.692C>A
  hgvsp: ENSP00000394536.2:p.Ser231Tyr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.304C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser611Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-70544853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544853
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544853
    reference: chr 11
allele count: 2
allele frequency: 9.211495946941784e-5
allele num: 21712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.203G>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.1796G>A
  hgvsp: ENSP00000345193.4:p.Arg599His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.910G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.22G>A
  hgvsp: ENSP00000391570.1:p.Arg8His
  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.686G>A
  hgvsp: ENSP00000294018.4:p.Arg229His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.268G>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.656G>A
  hgvsp: ENSP00000394536.2:p.Arg219His
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg599His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

11-70544854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544854
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544854
    reference: chr 11
allele count: 1
allele frequency: 4.605323754259925e-5
allele num: 21714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.267C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.21C>T
  hgvsp: ENSP00000391570.1:p.Arg8Cys
  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.1795C>T
  hgvsp: ENSP00000345193.4:p.Arg599Cys
  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.655C>T
  hgvsp: ENSP00000394536.2:p.Arg219Cys
  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.685C>T
  hgvsp: ENSP00000294018.4:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.202C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.909C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg599Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

11-70544860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544860
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544860
    reference: chr 11
allele count: 1
allele frequency: 4.605747973470892e-5
allele num: 21712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.196G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.261G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.903G>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.1789G>A
  hgvsp: ENSP00000345193.4:p.Ala597Thr
  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.679G>A
  hgvsp: ENSP00000294018.4:p.Ala227Thr
  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.649G>A
  hgvsp: ENSP00000394536.2:p.Ala217Thr
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.15G>A
  hgvsp: ENSP00000391570.1:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala597Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

11-70544861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544861
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544861
    reference: chr 11
allele count: 1
allele frequency: 4.606172270842929e-5
allele num: 21710
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.1788C>T
  hgvsp: ENST00000338508.4:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.195C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.260C>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.648C>T
  hgvsp: ENST00000423696.2:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.14C>T
  hgvsp: ENST00000426687.1:c.14C>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.678C>T
  hgvsp: ENST00000294018.4:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.902C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg596Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-70544864-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544864
    reference: chr 11
allele count: 286
allele frequency: 1.317365269461078e-2
allele num: 21710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.899C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.11C>G
  hgvsp: ENST00000426687.1:c.11C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.257C>G
  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.1785C>G
  hgvsp: ENST00000338508.4:c.1785C>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.675C>G
  hgvsp: ENST00000294018.4:c.675C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.192C>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.645C>G
  hgvsp: ENST00000423696.2:c.645C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr595Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-70544864-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544864
    reference: chr 11
allele count: 1
allele frequency: 4.606172270842929e-5
allele num: 21710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.645C>A
  hgvsp: ENST00000423696.2:c.645C>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.675C>A
  hgvsp: ENST00000294018.4:c.675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.899C>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.1785C>A
  hgvsp: ENST00000338508.4:c.1785C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000391570
  ensembl transcript: ENST00000426687
  gene symbol: SHANK2
  hgvsc: ENST00000426687.1:c.11C>A
  hgvsp: ENST00000426687.1:c.11C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.257C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.192C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr595Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-70544893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544893
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544893
    reference: chr 11
allele count: 1
allele frequency: 4.610844706750277e-5
allele num: 21688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.641-25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1781-25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.671-25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.188-25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.895-25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.253-25G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

11-70544917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544917
    reference: chr 11
allele count: 3
allele frequency: 1.386321626617375e-4
allele num: 21640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.895-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.253-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.671-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1781-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.641-49C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.188-49C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-70544920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544920
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544920
    reference: chr 11
allele count: 210
allele frequency: 9.70784023668639e-3
allele num: 21632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.895-52G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1781-52G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.671-52G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.641-52G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.253-52G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.188-52G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7763
  bin: 9.75e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 4
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

11-70544921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70544921
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70544921
    reference: chr 11
allele count: 2626
allele frequency: 1.214166820787868e-1
allele num: 21628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.188-53C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1781-53C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.253-53C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.641-53C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.671-53C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.895-53C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 2.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 9.75e1
  variant carriers: 695
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 5
num of homozygotes: 218
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-70644491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644491
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644491
    reference: chr 11
allele count: 4
allele frequency: 2.106149957877001e-4
allele num: 18992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+57G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+57G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+57G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+57G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+57G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+57G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-70644494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644494
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644494
    reference: chr 11
allele count: 3
allele frequency: 1.579612468407751e-4
allele num: 18992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+54C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+54C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+54C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+54C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+54C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+54C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

11-70644502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644502
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644502
    reference: chr 11
allele count: 2
allele frequency: 1.051856526769749e-4
allele num: 19014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+46A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+46A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+46A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+46A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+46A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+46A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

11-70644513-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644513
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644513
    reference: chr 11
allele count: 82
allele frequency: 4.320792496574981e-3
allele num: 18978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+35C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+35C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+35C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+35C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+35C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+35C>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

11-70644526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644526
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644526
    reference: chr 11
allele count: 1
allele frequency: 5.237247302817639e-5
allele num: 19094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+22G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+22G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-70644532-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644532
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644532
    reference: chr 11
allele count: 1
allele frequency: 5.201289919900135e-5
allele num: 19226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+16G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+16G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+16G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+16G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+16G>C
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+16G>C
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-70644532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644532
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644532
    reference: chr 11
allele count: 11
allele frequency: 5.721418911890149e-4
allele num: 19226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+16G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+16G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+16G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+16G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+16G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+16G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-70644533-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644533
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644533
    reference: chr 11
allele count: 1
allele frequency: 5.191568892119199e-5
allele num: 19262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+15C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+15C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+15C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+15C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+15C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+15C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

11-70644535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644535
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644535
    reference: chr 11
allele count: 1
allele frequency: 5.178127589063794e-5
allele num: 19312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+13C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+13C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+13C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+13C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+13C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+13C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

11-70644536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644536
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644536
    reference: chr 11
allele count: 3
allele frequency: 1.553921060810111e-4
allele num: 19306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+12G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+12G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+12G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+12G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+12G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+12G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-70644537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644537
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644537
    reference: chr 11
allele count: 190
allele frequency: 9.816077702004546e-3
allele num: 19356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+11C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+11C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+11C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+11C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+11C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+11C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 5
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

11-70644540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644540
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644540
    reference: chr 11
allele count: 2
allele frequency: 1.029548028415526e-4
allele num: 19426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.670+8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1780+8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.894+8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.640+8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.187+8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.252+8G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1780+8G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

11-70644566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644566
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644566
    reference: chr 11
allele count: 7
allele frequency: 3.530717239987895e-4
allele num: 19826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.876C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.169C>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.652C>T
  hgvsp: ENSP00000294018.4:p.Pro218Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.718C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.234C>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.1762C>T
  hgvsp: ENSP00000345193.4:p.Pro588Ser
  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.622C>T
  hgvsp: ENSP00000394536.2:p.Pro208Ser
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro588Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-70644583-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644583
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644583
    reference: chr 11
allele count: 1
allele frequency: 5.018568704205561e-5
allele num: 19926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.152A>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.701A>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.635A>T
  hgvsp: ENSP00000294018.4:p.Glu212Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.217A>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.1745A>T
  hgvsp: ENSP00000345193.4:p.Glu582Val
  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.605A>T
  hgvsp: ENSP00000394536.2:p.Glu202Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.859A>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu582Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

11-70644587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644587
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644587
    reference: chr 11
allele count: 1
allele frequency: 5.011526510975243e-5
allele num: 19954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.855G>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.631G>A
  hgvsp: ENSP00000294018.4:p.Val211Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.697G>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.1741G>A
  hgvsp: ENSP00000345193.4:p.Val581Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.148G>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.601G>A
  hgvsp: ENSP00000394536.2:p.Val201Met
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.213G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Val581Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-70644594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644594
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644594
    reference: chr 11
allele count: 2
allele frequency: 1.000500250125063e-4
allele num: 19990
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.1734G>A
  hgvsp: ENST00000338508.4:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.690G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.206G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.141G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.848G>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.594G>A
  hgvsp: ENST00000423696.2:c.594G>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.624G>A
  hgvsp: ENST00000294018.4:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala578Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-70644597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644597
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644597
    reference: chr 11
allele count: 1
allele frequency: 5.004003202562049e-5
allele num: 19984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.138G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.845G>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.1731G>A
  hgvsp: ENST00000338508.4:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.687G>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.591G>A
  hgvsp: ENST00000423696.2:c.591G>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.621G>A
  hgvsp: ENST00000294018.4:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.203G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro577Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-70644609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644609
    reference: chr 11
allele count: 1
allele frequency: 4.986536351850005e-5
allele num: 20054
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.1719C>T
  hgvsp: ENST00000338508.4:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.675C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.191C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.833C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.126C>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.579C>T
  hgvsp: ENST00000423696.2:c.579C>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.609C>T
  hgvsp: ENST00000294018.4:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile573Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

11-70644619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644619
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644619
    reference: chr 11
allele count: 99
allele frequency: 4.934210526315789e-3
allele num: 20064
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.599G>A
  hgvsp: ENSP00000294018.4:p.Arg200His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.665G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.116G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.823G>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.1709G>A
  hgvsp: ENSP00000345193.4:p.Arg570His
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.181G>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.569G>A
  hgvsp: ENSP00000394536.2:p.Arg190His
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Arg570His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-70644639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644639
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644639
    reference: chr 11
allele count: 3
allele frequency: 1.494470459300588e-4
allele num: 20074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.645C>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.549C>T
  hgvsp: ENST00000423696.2:c.549C>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.579C>T
  hgvsp: ENST00000294018.4:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.161C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.96C>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.1689C>T
  hgvsp: ENST00000338508.4:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.803C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly563Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-70644650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644650
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644650
    reference: chr 11
allele count: 1
allele frequency: 4.993009786299181e-5
allele num: 20028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.150G>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.538G>A
  hgvsp: ENSP00000394536.2:p.Gly180Ser
  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.1678G>A
  hgvsp: ENSP00000345193.4:p.Gly560Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.634G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.792G>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.568G>A
  hgvsp: ENSP00000294018.4:p.Gly190Ser
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.85G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly560Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

11-70644653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644653
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644653
    reference: chr 11
allele count: 2
allele frequency: 9.9930048965724e-5
allele num: 20014
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.535A>G
  hgvsp: ENSP00000394536.2:p.Ile179Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.82A>G
  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.1675A>G
  hgvsp: ENSP00000345193.4:p.Ile559Val
  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.565A>G
  hgvsp: ENSP00000294018.4:p.Ile189Val
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.147A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.631A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.789A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile559Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-70644655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644655
    reference: chr 11
allele count: 79
allele frequency: 3.948815355393382e-3
allele num: 20006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.80G>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.533G>A
  hgvsp: ENSP00000394536.2:p.Ser178Asn
  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.1673G>A
  hgvsp: ENSP00000345193.4:p.Ser558Asn
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.787G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.629G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.145G>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.563G>A
  hgvsp: ENSP00000294018.4:p.Ser188Asn
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ser558Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/11-70644669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644669
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644669
    reference: chr 11
allele count: 2
allele frequency: 1.005429318318922e-4
allele num: 19892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-8G>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-8G>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1667-8G>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

11-70644669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644669
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644669
    reference: chr 11
allele count: 2
allele frequency: 1.005429318318922e-4
allele num: 19892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-8G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-8G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1667-8G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

11-70644670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644670
    reference: chr 11
allele count: 23
allele frequency: 1.157290932877126e-3
allele num: 19874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-9C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-9C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-70644679-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644679
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644679
    reference: chr 11
allele count: 7
allele frequency: 3.534996465003535e-4
allele num: 19802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-18C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-18C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

11-70644693-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644693
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644693
    reference: chr 11
allele count: 1
allele frequency: 5.102561485865905e-5
allele num: 19598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-32T>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-32T>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

11-70644694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644694
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644694
    reference: chr 11
allele count: 1
allele frequency: 5.115089514066496e-5
allele num: 19550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-33C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-33C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

11-70644695-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644695
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644695
    reference: chr 11
allele count: 14
allele frequency: 7.158196134574087e-4
allele num: 19558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-34C>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-34C>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

11-70644695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644695
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644695
    reference: chr 11
allele count: 2
allele frequency: 1.022599447796298e-4
allele num: 19558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-34C>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-34C>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-70644701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644701
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644701
    reference: chr 11
allele count: 1
allele frequency: 5.169027189083014e-5
allele num: 19346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-40G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-40G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

11-70644702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70644702
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70644702
    reference: chr 11
allele count: 2
allele frequency: 1.029866117404737e-4
allele num: 19420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.527-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.781-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1667-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.557-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.623-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.74-41C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.139-41C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-70653082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70653082
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70653082
    reference: chr 11
allele count: 3
allele frequency: 1.646903820816864e-4
allele num: 18216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.138+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.526+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.622+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1666+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.780+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.73+25G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.556+25G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-70653083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70653083
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70653083
    reference: chr 11
allele count: 1
allele frequency: 5.451373746184039e-5
allele num: 18344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.622+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1666+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.780+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.73+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.526+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.138+24C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.556+24C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-70653089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70653089
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70653089
    reference: chr 11
allele count: 1
allele frequency: 5.383869925702595e-5
allele num: 18574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.138+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.73+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1666+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.622+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.780+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000294018
  ensembl transcript: ENST00000294018
  gene symbol: SHANK2
  hgvsc: ENST00000294018.4:c.556+18G>A
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000394536
  ensembl transcript: ENST00000423696
  gene symbol: SHANK2
  hgvsc: ENST00000423696.2:c.526+18G>A
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

11-70653116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70653116
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70653116
    reference: chr 11
allele count: 1
allele frequency: 5.157829585310501e-5
allele num: 19388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162105
  ensembl protein: ENSP00000345193
  ensembl transcript: ENST00000338508
  gene symbol: SHANK2
  hgvsc: ENST00000338508.4:c.1657A>G
  hgvsp: ENSP00000345193.4:p.Arg553Gly
  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.517A>G
  hgvsp: ENSP00000394536.2:p.Arg173Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.613A>G
  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.547A>G
  hgvsp: ENSP00000294018.4:p.Arg183Gly
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.64A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.129A>G
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.771A>G
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg553Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-70653123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70653123
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 70653123
    reference: chr 11
allele count: 2
allele frequency: 1.025851456709069e-4
allele num: 19496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000470759
  gene symbol: SHANK2
  hgvsc: ENST00000470759.1:n.57C>T
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000468619
  gene symbol: SHANK2
  hgvsc: ENST00000468619.1:n.764C>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.1650C>T
  hgvsp: ENST00000338508.4:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000460048
  gene symbol: SHANK2
  hgvsc: ENST00000460048.1:n.606C>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.510C>T
  hgvsp: ENST00000423696.2:c.510C>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.540C>T
  hgvsp: ENST00000294018.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162105
  ensembl transcript: ENST00000498519
  gene symbol: SHANK2
  hgvsc: ENST00000498519.1:n.122C>T
  variant of: http://identifiers.org/hgnc/14295
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg550Arg
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34405
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 6.75e1
variant carriers: 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: 11572
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: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.660723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: -5.548e-1

FS
type: SiteQuality
SIO_000300: 6.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

MQ
type: SiteQuality
SIO_000300: 5.864e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3077
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7560
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 908
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 5.871e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 3.660653e6

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 3135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34403
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7560
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2448
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.75e1
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: 0
allele frequency: 0.0e0
allele num: 66686
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: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 3.660653e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.871e0

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 2601
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3134
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
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
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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SIO_000300: 2.0e-4

MQRankSum
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SIO_000300: 1.37e0

MQ
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SIO_000300: 5.8e1

FS
type: SiteQuality
SIO_000300: 1.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

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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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
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SIO_000300: 4.84e0

InbreedingCoeff
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SIO_000300: 2.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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SIO_000300: 3.658122e6

QD
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MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

Other
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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: 10350
num of homozygotes: 0

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

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

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: 7.000000000000001e-2

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.481e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.653395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.038e1

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: 1

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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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: 908
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
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
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SIO_000300: -4.307e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

FS
type: SiteQuality
SIO_000300: 7.175e0

DP
type: SiteQuality
SIO_000300: 3.653214e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 6.239e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502881844380403e-5
allele num: 66624
num of homozygotes: 0

European (Finnish)
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allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
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allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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QD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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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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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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South Asian
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East Asian
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allele num: 8650
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Other
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

Latino
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East Asian
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allele frequency: 1.502890173410405e-3
allele num: 8650
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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 frequency: 0.0e0
allele num: 66596
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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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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African
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 908
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VQSLOD
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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African
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allele frequency: 9.720062208398134e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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allele num: 10278
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

QD
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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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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ClippingRankSum
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SIO_000300: 2.34e0

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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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: 1.142334932602239e-4
allele num: 8754
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QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQ
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MQRankSum
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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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European (Finnish)
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East Asian
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allele num: 622
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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Other
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Other
type: Population
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Latino
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African
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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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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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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DP
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MQ
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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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African
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South Asian
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allele num: 7914
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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allele num: 242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 6.26645e5

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

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.651162790697675e-4
allele num: 2150
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.369e1

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.26625e5

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

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
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GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.141813199360585e-4
allele num: 8758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

DP
type: SiteQuality
SIO_000300: 6.26311e5

FS
type: SiteQuality
SIO_000300: 3.429e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.675e0

QD
type: SiteQuality
SIO_000300: 1.214e1

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.284148012791229e-4
allele num: 8756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.23423e5

FS
type: SiteQuality
SIO_000300: 8.75e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -3.423e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7768
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 6.23309e5

FS
type: SiteQuality
SIO_000300: 1.765e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.113e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

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

GenotypeQuality
all individuals: 7768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 6.23163e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

QD
type: SiteQuality
SIO_000300: 1.002e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.471e0

QD
type: SiteQuality
SIO_000300: 1.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 6.22971e5

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7843
bin: 9.75e1
variant carriers: 286

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
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GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
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GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.327746741154563e-3
allele num: 2148
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 1.951219512195122e-2
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 235
allele frequency: 2.685100548446069e-2
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.64265857973212e-3
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 1.477832512315271e-2
allele num: 1624
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.132231404958678e-3
allele num: 242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

DP
type: SiteQuality
SIO_000300: 6.40406e5

GenotypeQuality
all individuals: 1965
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 7843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
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GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.142595978062157e-4
allele num: 8752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

FS
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 6.40406e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

QD
type: SiteQuality
SIO_000300: 1.57e1

FS
type: SiteQuality
SIO_000300: 4.213e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 6.21437e5

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

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 670
bin: 6.25e1
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GenotypeQuality
all individuals: 316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.441945846718678e-4
allele num: 8716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.437e0

DP
type: SiteQuality
SIO_000300: 6.14705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

FS
type: SiteQuality
SIO_000300: 1.283e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 209
allele frequency: 2.640889562800101e-2
allele num: 7914
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.147578609134726e-4
allele num: 8714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.408e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

DP
type: SiteQuality
SIO_000300: 6.2084e5

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8281
bin: 9.75e1
variant carriers: 2369

GenotypeQuality
all individuals: 488
bin: 6.25e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 917
allele frequency: 1.053054662379421e-1
allele num: 8708
num of homozygotes: 57

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 899
allele frequency: 1.136248736097068e-1
allele num: 7912
num of homozygotes: 59

African
type: Population
allele count: 683
allele frequency: 3.182665424044734e-1
allele num: 2146
num of homozygotes: 99

Other
type: Population
allele count: 17
allele frequency: 7.024793388429752e-2
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 69
allele frequency: 4.334170854271357e-2
allele num: 1592
num of homozygotes: 2

Latino
type: Population
allele count: 41
allele frequency: 1.0e-1
allele num: 410
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e0

DP
type: SiteQuality
SIO_000300: 6.51887e5

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.96e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.58e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.828e0

GenotypeQuality
all individuals: 1367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.056890012642225e-4
allele num: 7910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.00202e5

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

FS
type: SiteQuality
SIO_000300: 9.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.529051987767584e-3
allele num: 1962
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 3.00349e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

FS
type: SiteQuality
SIO_000300: 1.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

GenotypeQuality
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.535496957403651e-4
allele num: 7888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

VQSLOD
type: SiteQuality
SIO_000300: -5.686e-1

DP
type: SiteQuality
SIO_000300: 3.0118e5

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 2269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 1.063829787234043e-2
allele num: 376
num of homozygotes: 0

African
type: Population
allele count: 76
allele frequency: 3.885480572597137e-2
allele num: 1956
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.536783358701167e-4
allele num: 7884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

FS
type: SiteQuality
SIO_000300: 1.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 3.02633e5

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.0573e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.72e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 2.522e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.266143327424664e-4
allele num: 7898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 3.09552e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

FS
type: SiteQuality
SIO_000300: 1.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 3.992015968063872e-3
allele num: 2004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.740648379052369e-4
allele num: 8020
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.262e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 3.09552e5

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.243781094527363e-4
allele num: 8040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.419e-1

QD
type: SiteQuality
SIO_000300: 1.728e1

MQRankSum
type: SiteQuality
SIO_000300: -1.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

DP
type: SiteQuality
SIO_000300: 3.10715e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 1.433e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

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

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.239771881973717e-4
allele num: 8066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: -1.373e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 3.11367e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

FS
type: SiteQuality
SIO_000300: 1.202e0

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.79746835443038e-4
allele num: 7900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.1189e5

VQSLOD
type: SiteQuality
SIO_000300: -1.659e-1

FS
type: SiteQuality
SIO_000300: 2.862e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 8.91e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 185

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
type: Population
allele count: 189
allele frequency: 2.391799544419134e-2
allele num: 7902
num of homozygotes: 5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 3.201e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.577319587628866e-3
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264862130027827e-4
allele num: 7906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 3.1134e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 3.147e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 11
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 8.387251377905584e-4
allele num: 8346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 3.18203e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 1547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 2561
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GenotypeQuality
all individuals: 370
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 316
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GenotypeQuality
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 762
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.734848484848485e-4
allele num: 2112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.507e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 5.859e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 3.17526e5

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 783
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
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GenotypeQuality
all individuals: 494
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GenotypeQuality
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GenotypeQuality
all individuals: 4888
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GenotypeQuality
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GenotypeQuality
all individuals: 1157
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GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.190759704691593e-4
allele num: 8398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.634e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

DP
type: SiteQuality
SIO_000300: 3.17688e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.103e0

DP
type: SiteQuality
SIO_000300: 3.18392e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: -3.793e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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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
all individuals: 49
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GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.748338081671415e-4
allele num: 2106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -5.436e-1

FS
type: SiteQuality
SIO_000300: 1.079e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 3.18936e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 193
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.21246e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 7.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3179
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.75e1
variant carriers: 99

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 2

African
type: Population
allele count: 6
allele frequency: 2.822201317027281e-3
allele num: 2126
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.225490196078431e-2
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 2.528089887640449e-2
allele num: 356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 9.11026975863701e-3
allele num: 8452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 3.23687e5

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.791708796764409e-4
allele num: 7912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.069e1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

FS
type: SiteQuality
SIO_000300: 1.272e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 3.24392e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.187930624851509e-4
allele num: 8418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.79e-1

FS
type: SiteQuality
SIO_000300: 1.474e1

VQSLOD
type: SiteQuality
SIO_000300: -2.308e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

QD
type: SiteQuality
SIO_000300: 8.1e0

DP
type: SiteQuality
SIO_000300: 3.25035e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 4.739336492890995e-4
allele num: 2110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 3.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.163e0

DP
type: SiteQuality
SIO_000300: 3.25167e5

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 79

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 7.317073170731708e-3
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.154639175257732e-3
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 3.320683111954459e-3
allele num: 2108
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 2.907711757269279e-3
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 5.354593050928129e-3
allele num: 8404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.26767e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

FS
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 6022
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.402691013935608e-4
allele num: 8324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.68e-2

QD
type: SiteQuality
SIO_000300: 1.214e1

DP
type: SiteQuality
SIO_000300: 3.22065e5

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.34e-1

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 518
bin: 7.75e1
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 4851
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.402691013935608e-4
allele num: 8324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.68e-2

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 3.22065e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

GenotypeQuality
all individuals: 1273
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6004
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1113
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.431297709923664e-3
allele num: 2096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.351351351351351e-2
allele num: 370
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.203079884504331e-3
allele num: 8312
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.335529650278763e-4
allele num: 7892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.252e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.21167e5

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
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GenotypeQuality
all individuals: 4524
bin: 6.25e1
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 507
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GenotypeQuality
all individuals: 1453
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GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.890017780035561e-4
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.41e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 8.294e0

VQSLOD
type: SiteQuality
SIO_000300: -9.435e-1

DP
type: SiteQuality
SIO_000300: 3.18697e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
all individuals: 3246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 2.5e0
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GenotypeQuality
all individuals: 506
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GenotypeQuality
all individuals: 461
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GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 127
bin: 8.75e1
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GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.222195062331948e-4
allele num: 8182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 3.4e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -7.937e-1

DP
type: SiteQuality
SIO_000300: 2.99922e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.98e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 7.84e0

DP
type: SiteQuality
SIO_000300: 2.95509e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.98e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 2.5e0
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GenotypeQuality
all individuals: 2928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 3.407984420642649e-3
allele num: 2054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.006711409395973e-2
allele num: 596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.454e0

DP
type: SiteQuality
SIO_000300: 2.95548e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
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GenotypeQuality
all individuals: 1089
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.226993865030675e-4
allele num: 8150
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.868549172346641e-4
allele num: 2054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.95548e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.454e0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 779
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
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variant carriers: 1

GenotypeQuality
all individuals: 2361
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.439024390243902e-3
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 5.731e0

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: -1.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 2.86554e5

GenotypeQuality
all individuals: 1587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
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variant carriers: 0

GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 434
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variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.573340195573855e-4
allele num: 7772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.86352e5

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

GenotypeQuality
all individuals: 1958
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.766005523474768e-4
allele num: 7966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 2.905e0

DP
type: SiteQuality
SIO_000300: 2.35074e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
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variant carriers: 1

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

GenotypeQuality
all individuals: 4879
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.639344262295082e-3
allele num: 610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.38545e5

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.25e1
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GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.39314572304263e-4
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.132e0

VQSLOD
type: SiteQuality
SIO_000300: -1.633e0

QD
type: SiteQuality
SIO_000300: 6.37e0

DP
type: SiteQuality
SIO_000300: 2.45557e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5714
bin: 6.25e1
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GenotypeQuality
all individuals: 2052
bin: 7.5e0
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GenotypeQuality
all individuals: 1433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.20889748549323e-4
allele num: 8272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.63337e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.929e0

QD
type: SiteQuality
SIO_000300: 1.721e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 4.116e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2