4-186544975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186544975
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186544975
    reference: chr 4
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1308T>C
  hgvsp: ENST00000418609.1:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1596T>C
  hgvsp: ENST00000431808.1:c.1596T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1596T>C
  hgvsp: ENST00000284776.7:c.1596T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1896T>C
  hgvsp: ENST00000355634.5:c.1896T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+3011T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+3011T>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser632Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

4-186544981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186544981
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186544981
    reference: chr 4
allele count: 162
allele frequency: 1.334717484799051e-3
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1302G>A
  hgvsp: ENSP00000397482.1:p.Met434Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1890G>A
  hgvsp: ENSP00000347852.5:p.Met630Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1590G>A
  hgvsp: ENSP00000284776.7:p.Met530Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+3005G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1590G>A
  hgvsp: ENSP00000411764.1:p.Met530Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+3005G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met630Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

4-186545007-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545007
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545007
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1564T>C
  hgvsp: ENSP00000284776.7:p.Ser522Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1864T>C
  hgvsp: ENSP00000347852.5:p.Ser622Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1564T>C
  hgvsp: ENSP00000411764.1:p.Ser522Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1276T>C
  hgvsp: ENSP00000397482.1:p.Ser426Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2979T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2979T>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser622Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/4-186545017-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545017
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545017
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1854G>T
  hgvsp: ENSP00000347852.5:p.Gln618His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1266G>T
  hgvsp: ENSP00000397482.1:p.Gln422His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1554G>T
  hgvsp: ENSP00000411764.1:p.Gln518His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1554G>T
  hgvsp: ENSP00000284776.7:p.Gln518His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2969G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2969G>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln618His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-186545026-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545026
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545026
    reference: chr 4
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1545G>C
  hgvsp: ENSP00000411764.1:p.Lys515Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1257G>C
  hgvsp: ENSP00000397482.1:p.Lys419Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1845G>C
  hgvsp: ENSP00000347852.5:p.Lys615Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2960G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1545G>C
  hgvsp: ENSP00000284776.7:p.Lys515Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2960G>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys615Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

4-186545035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545035
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545035
    reference: chr 4
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1836A>G
  hgvsp: ENST00000355634.5:c.1836A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1248A>G
  hgvsp: ENST00000418609.1:c.1248A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1536A>G
  hgvsp: ENST00000284776.7:c.1536A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1536A>G
  hgvsp: ENST00000431808.1:c.1536A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2951A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2951A>G
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu612Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-186545038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545038
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545038
    reference: chr 4
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1833C>T
  hgvsp: ENST00000355634.5:c.1833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1245C>T
  hgvsp: ENST00000418609.1:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1533C>T
  hgvsp: ENST00000284776.7:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1533C>T
  hgvsp: ENST00000431808.1:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2948C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2948C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser611Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

4-186545041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545041
    reference: chr 4
allele count: 12
allele frequency: 9.884515905833511e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1830C>T
  hgvsp: ENST00000355634.5:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1530C>T
  hgvsp: ENST00000431808.1:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1530C>T
  hgvsp: ENST00000284776.7:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2945C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1242C>T
  hgvsp: ENST00000418609.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2945C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile610Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-186545045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545045
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545045
    reference: chr 4
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1238G>A
  hgvsp: ENSP00000397482.1:p.Arg413His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1526G>A
  hgvsp: ENSP00000284776.7:p.Arg509His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1826G>A
  hgvsp: ENSP00000347852.5:p.Arg609His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2941G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1526G>A
  hgvsp: ENSP00000411764.1:p.Arg509His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2941G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg609His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

4-186545046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545046
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545046
    reference: chr 4
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1237C>T
  hgvsp: ENSP00000397482.1:p.Arg413Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1525C>T
  hgvsp: ENSP00000411764.1:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1825C>T
  hgvsp: ENSP00000347852.5:p.Arg609Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1525C>T
  hgvsp: ENSP00000284776.7:p.Arg509Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2940C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2940C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg609Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-186545058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545058
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545058
    reference: chr 4
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1813A>G
  hgvsp: ENSP00000347852.5:p.Met605Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1513A>G
  hgvsp: ENSP00000411764.1:p.Met505Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1513A>G
  hgvsp: ENSP00000284776.7:p.Met505Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2928A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1225A>G
  hgvsp: ENSP00000397482.1:p.Met409Val
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met605Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

4-186545063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545063
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545063
    reference: chr 4
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1808G>A
  hgvsp: ENSP00000347852.5:p.Arg603Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1220G>A
  hgvsp: ENSP00000397482.1:p.Arg407Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1508G>A
  hgvsp: ENSP00000411764.1:p.Arg503Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1508G>A
  hgvsp: ENSP00000284776.7:p.Arg503Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2923G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2923G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg603Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

4-186545064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545064
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545064
    reference: chr 4
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1807C>T
  hgvsp: ENSP00000347852.5:p.Arg603Trp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1219C>T
  hgvsp: ENSP00000397482.1:p.Arg407Trp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1507C>T
  hgvsp: ENSP00000284776.7:p.Arg503Trp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1507C>T
  hgvsp: ENSP00000411764.1:p.Arg503Trp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2922C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2922C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg603Trp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

4-186545067-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545067
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545067
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1804C>A
  hgvsp: ENSP00000347852.5:p.Pro602Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1216C>A
  hgvsp: ENSP00000397482.1:p.Pro406Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1504C>A
  hgvsp: ENSP00000411764.1:p.Pro502Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2919C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1504C>A
  hgvsp: ENSP00000284776.7:p.Pro502Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2919C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro602Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

4-186545068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545068
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545068
    reference: chr 4
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1503G>A
  hgvsp: ENST00000284776.7:c.1503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1803G>A
  hgvsp: ENST00000355634.5:c.1803G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1215G>A
  hgvsp: ENST00000418609.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1503G>A
  hgvsp: ENST00000431808.1:c.1503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2918G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2918G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val601Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-186545077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545077
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545077
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1206G>T
  hgvsp: ENST00000418609.1:c.1206G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1794G>T
  hgvsp: ENST00000355634.5:c.1794G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1494G>T
  hgvsp: ENST00000431808.1:c.1494G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1494G>T
  hgvsp: ENST00000284776.7:c.1494G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2909G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2909G>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr598Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

4-186545077-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545077
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545077
    reference: chr 4
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1206G>C
  hgvsp: ENST00000418609.1:c.1206G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1494G>C
  hgvsp: ENST00000284776.7:c.1494G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1794G>C
  hgvsp: ENST00000355634.5:c.1794G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1494G>C
  hgvsp: ENST00000431808.1:c.1494G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2909G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2909G>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr598Thr
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: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-186545083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545083
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545083
    reference: chr 4
allele count: 14
allele frequency: 1.153250518962734e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1488C>T
  hgvsp: ENST00000431808.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1488C>T
  hgvsp: ENST00000284776.7:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1200C>T
  hgvsp: ENST00000418609.1:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1788C>T
  hgvsp: ENST00000355634.5:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2903C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2903C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys596Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-186545089-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545089
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545089
    reference: chr 4
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1482C>A
  hgvsp: ENSP00000284776.7:p.Ser494Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1482C>A
  hgvsp: ENSP00000411764.1:p.Ser494Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1782C>A
  hgvsp: ENSP00000347852.5:p.Ser594Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2897C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1194C>A
  hgvsp: ENSP00000397482.1:p.Ser398Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2897C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser594Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

4-186545090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545090
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545090
    reference: chr 4
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1481G>A
  hgvsp: ENSP00000284776.7:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1481G>A
  hgvsp: ENSP00000411764.1:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1193G>A
  hgvsp: ENSP00000397482.1:p.Ser398Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1781G>A
  hgvsp: ENSP00000347852.5:p.Ser594Asn
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2896G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2896G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser594Asn
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-186545091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545091
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545091
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1192A>G
  hgvsp: ENSP00000397482.1:p.Ser398Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1480A>G
  hgvsp: ENSP00000411764.1:p.Ser494Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1480A>G
  hgvsp: ENSP00000284776.7:p.Ser494Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1780A>G
  hgvsp: ENSP00000347852.5:p.Ser594Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2895A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2895A>G
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser594Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-186545097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545097
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545097
    reference: chr 4
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1186G>A
  hgvsp: ENSP00000397482.1:p.Ala396Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1474G>A
  hgvsp: ENSP00000411764.1:p.Ala492Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1774G>A
  hgvsp: ENSP00000347852.5:p.Ala592Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1474G>A
  hgvsp: ENSP00000284776.7:p.Ala492Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2889G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2889G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala592Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-186545103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545103
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545103
    reference: chr 4
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1768C>T
  hgvsp: ENST00000355634.5:c.1768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1468C>T
  hgvsp: ENST00000284776.7:c.1468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1180C>T
  hgvsp: ENST00000418609.1:c.1180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1468C>T
  hgvsp: ENST00000431808.1:c.1468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2883C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2883C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu590Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-186545106-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545106
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545106
    reference: chr 4
allele count: 57
allele frequency: 4.695841297040796e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1465C>A
  hgvsp: ENSP00000284776.7:p.Leu489Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1465C>A
  hgvsp: ENSP00000411764.1:p.Leu489Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1765C>A
  hgvsp: ENSP00000347852.5:p.Leu589Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1177C>A
  hgvsp: ENSP00000397482.1:p.Leu393Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2880C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2880C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu589Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

4-186545124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545124
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545124
    reference: chr 4
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1447G>A
  hgvsp: ENSP00000411764.1:p.Glu483Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1447G>A
  hgvsp: ENSP00000284776.7:p.Glu483Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1747G>A
  hgvsp: ENSP00000347852.5:p.Glu583Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1159G>A
  hgvsp: ENSP00000397482.1:p.Glu387Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2862G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2862G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu583Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS

4-186545125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545125
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545125
    reference: chr 4
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1446C>T
  hgvsp: ENST00000431808.1:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1158C>T
  hgvsp: ENST00000418609.1:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1746C>T
  hgvsp: ENST00000355634.5:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1446C>T
  hgvsp: ENST00000284776.7:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2861C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2861C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser582Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-186545125-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545125
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545125
    reference: chr 4
allele count: 46
allele frequency: 3.789501433420108e-4
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1746C>A
  hgvsp: ENSP00000347852.5:p.Ser582Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1158C>A
  hgvsp: ENSP00000397482.1:p.Ser386Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1446C>A
  hgvsp: ENSP00000284776.7:p.Ser482Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1446C>A
  hgvsp: ENSP00000411764.1:p.Ser482Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2861C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2861C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser582Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-186545130-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545130
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1741G>C
  hgvsp: ENSP00000347852.5:p.Glu581Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1441G>C
  hgvsp: ENSP00000411764.1:p.Glu481Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1153G>C
  hgvsp: ENSP00000397482.1:p.Glu385Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1441G>C
  hgvsp: ENSP00000284776.7:p.Glu481Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2856G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2856G>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu581Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

4-186545130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545130
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545130
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1441G>A
  hgvsp: ENSP00000284776.7:p.Glu481Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1441G>A
  hgvsp: ENSP00000411764.1:p.Glu481Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1741G>A
  hgvsp: ENSP00000347852.5:p.Glu581Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1153G>A
  hgvsp: ENSP00000397482.1:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2856G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2856G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu581Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

4-186545133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545133
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545133
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1438T>C
  hgvsp: ENSP00000284776.7:p.Tyr480His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1150T>C
  hgvsp: ENSP00000397482.1:p.Tyr384His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1438T>C
  hgvsp: ENSP00000411764.1:p.Tyr480His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2853T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1738T>C
  hgvsp: ENSP00000347852.5:p.Tyr580His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2853T>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr580His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

4-186545136-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545136
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545136
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1435C>A
  hgvsp: ENSP00000411764.1:p.Gln479Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1735C>A
  hgvsp: ENSP00000347852.5:p.Gln579Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1435C>A
  hgvsp: ENSP00000284776.7:p.Gln479Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1147C>A
  hgvsp: ENSP00000397482.1:p.Gln383Lys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2850C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2850C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln579Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-186545139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545139
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545139
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1432C>T
  hgvsp: ENST00000431808.1:c.1432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1732C>T
  hgvsp: ENST00000355634.5:c.1732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1144C>T
  hgvsp: ENST00000418609.1:c.1144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1432C>T
  hgvsp: ENST00000284776.7:c.1432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2847C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2847C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu578Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

4-186545152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545152
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545152
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1419G>A
  hgvsp: ENST00000284776.7:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1419G>A
  hgvsp: ENST00000431808.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1131G>A
  hgvsp: ENST00000418609.1:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1719G>A
  hgvsp: ENST00000355634.5:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2834G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2834G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val573Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

4-186545160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545160
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545160
    reference: chr 4
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1411T>C
  hgvsp: ENSP00000411764.1:p.Cys471Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1411T>C
  hgvsp: ENSP00000284776.7:p.Cys471Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1711T>C
  hgvsp: ENSP00000347852.5:p.Cys571Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1123T>C
  hgvsp: ENSP00000397482.1:p.Cys375Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2826T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2826T>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys571Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-186545161-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545161
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545161
    reference: chr 4
allele count: 9
allele frequency: 7.414119779223988e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1410C>G
  hgvsp: ENSP00000411764.1:p.Ile470Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1710C>G
  hgvsp: ENSP00000347852.5:p.Ile570Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1410C>G
  hgvsp: ENSP00000284776.7:p.Ile470Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2825C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1122C>G
  hgvsp: ENSP00000397482.1:p.Ile374Met
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2825C>G
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile570Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-186545169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545169
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545169
    reference: chr 4
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1402G>C
  hgvsp: ENSP00000411764.1:p.Glu468Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1702G>C
  hgvsp: ENSP00000347852.5:p.Glu568Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1114G>C
  hgvsp: ENSP00000397482.1:p.Glu372Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2817G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1402G>C
  hgvsp: ENSP00000284776.7:p.Glu468Gln
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu568Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-186545178-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545178
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545178
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1105A>T
  hgvsp: ENSP00000397482.1:p.Met369Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1393A>T
  hgvsp: ENSP00000284776.7:p.Met465Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1693A>T
  hgvsp: ENSP00000347852.5:p.Met565Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1393A>T
  hgvsp: ENSP00000411764.1:p.Met465Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2808A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2808A>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met565Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

4-186545187-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545187
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545187
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1096A>C
  hgvsp: ENSP00000397482.1:p.Lys366Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1384A>C
  hgvsp: ENSP00000411764.1:p.Lys462Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1684A>C
  hgvsp: ENSP00000347852.5:p.Lys562Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1384A>C
  hgvsp: ENSP00000284776.7:p.Lys462Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2799A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2799A>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys562Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-186545189-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1682G>T
  hgvsp: ENSP00000347852.5:p.Arg561Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1382G>T
  hgvsp: ENSP00000411764.1:p.Arg461Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1094G>T
  hgvsp: ENSP00000397482.1:p.Arg365Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1382G>T
  hgvsp: ENSP00000284776.7:p.Arg461Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2797G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2797G>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg561Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-186545189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1682G>C
  hgvsp: ENSP00000347852.5:p.Arg561Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1382G>C
  hgvsp: ENSP00000284776.7:p.Arg461Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1094G>C
  hgvsp: ENSP00000397482.1:p.Arg365Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1382G>C
  hgvsp: ENSP00000411764.1:p.Arg461Pro
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2797G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2797G>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg561Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-186545189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545189
    reference: chr 4
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1382G>A
  hgvsp: ENSP00000411764.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1682G>A
  hgvsp: ENSP00000347852.5:p.Arg561His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1094G>A
  hgvsp: ENSP00000397482.1:p.Arg365His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1382G>A
  hgvsp: ENSP00000284776.7:p.Arg461His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2797G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2797G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg561His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

4-186545193-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545193
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545193
    reference: chr 4
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1378A>C
  hgvsp: ENSP00000284776.7:p.Asn460His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1378A>C
  hgvsp: ENSP00000411764.1:p.Asn460His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1678A>C
  hgvsp: ENSP00000347852.5:p.Asn560His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1090A>C
  hgvsp: ENSP00000397482.1:p.Asn364His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2793A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2793A>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn560His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

4-186545196-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545196
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545196
    reference: chr 4
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1087A>T
  hgvsp: ENSP00000397482.1:p.Ile363Phe
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1375A>T
  hgvsp: ENSP00000284776.7:p.Ile459Phe
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1675A>T
  hgvsp: ENSP00000347852.5:p.Ile559Phe
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1375A>T
  hgvsp: ENSP00000411764.1:p.Ile459Phe
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2790A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2790A>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile559Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

4-186545199-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545199
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545199
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1372C>A
  hgvsp: ENSP00000411764.1:p.Arg458Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1372C>A
  hgvsp: ENSP00000284776.7:p.Arg458Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1672C>A
  hgvsp: ENSP00000347852.5:p.Arg558Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1084C>A
  hgvsp: ENSP00000397482.1:p.Arg362Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2787C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2787C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg558Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-186545211-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545211
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545211
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1072A>C
  hgvsp: ENSP00000397482.1:p.Lys358Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1360A>C
  hgvsp: ENSP00000284776.7:p.Lys454Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1360A>C
  hgvsp: ENSP00000411764.1:p.Lys454Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1660A>C
  hgvsp: ENSP00000347852.5:p.Lys554Gln
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2775A>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2775A>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys554Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-186545215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545215
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545215
    reference: chr 4
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1068G>T
  hgvsp: ENSP00000397482.1:p.Met356Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1356G>T
  hgvsp: ENSP00000284776.7:p.Met452Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1656G>T
  hgvsp: ENSP00000347852.5:p.Met552Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1356G>T
  hgvsp: ENSP00000411764.1:p.Met452Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2771G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2771G>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met552Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

4-186545216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545216
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545216
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1067T>C
  hgvsp: ENSP00000397482.1:p.Met356Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1355T>C
  hgvsp: ENSP00000411764.1:p.Met452Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1355T>C
  hgvsp: ENSP00000284776.7:p.Met452Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2770T>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1655T>C
  hgvsp: ENSP00000347852.5:p.Met552Thr
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met552Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-186545219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545219
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545219
    reference: chr 4
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1352A>G
  hgvsp: ENSP00000411764.1:p.Lys451Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1352A>G
  hgvsp: ENSP00000284776.7:p.Lys451Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1064A>G
  hgvsp: ENSP00000397482.1:p.Lys355Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1652A>G
  hgvsp: ENSP00000347852.5:p.Lys551Arg
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2767A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2767A>G
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys551Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-186545227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545227
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545227
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1344G>A
  hgvsp: ENST00000284776.7:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1056G>A
  hgvsp: ENST00000418609.1:c.1056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1344G>A
  hgvsp: ENST00000431808.1:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1644G>A
  hgvsp: ENST00000355634.5:c.1644G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2759G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2759G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly548Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-186545228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545228
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545228
    reference: chr 4
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1343G>A
  hgvsp: ENSP00000411764.1:p.Gly448Glu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1343G>A
  hgvsp: ENSP00000284776.7:p.Gly448Glu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1055G>A
  hgvsp: ENSP00000397482.1:p.Gly352Glu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2758G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1643G>A
  hgvsp: ENSP00000347852.5:p.Gly548Glu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2758G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly548Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

4-186545230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545230
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545230
    reference: chr 4
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1341G>A
  hgvsp: ENST00000284776.7:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1341G>A
  hgvsp: ENST00000431808.1:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1053G>A
  hgvsp: ENST00000418609.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1641G>A
  hgvsp: ENST00000355634.5:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2756G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2756G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro547Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-186545231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545231
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545231
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1640C>T
  hgvsp: ENSP00000347852.5:p.Pro547Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1340C>T
  hgvsp: ENSP00000284776.7:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1052C>T
  hgvsp: ENSP00000397482.1:p.Pro351Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1340C>T
  hgvsp: ENSP00000411764.1:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2755C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2755C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro547Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

4-186545233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545233
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545233
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1338C>T
  hgvsp: ENST00000431808.1:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1638C>T
  hgvsp: ENST00000355634.5:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1050C>T
  hgvsp: ENST00000418609.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1338C>T
  hgvsp: ENST00000284776.7:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2753C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2753C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala546Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

4-186545233-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545233
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545233
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1050C>G
  hgvsp: ENST00000418609.1:c.1050C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1638C>G
  hgvsp: ENST00000355634.5:c.1638C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1338C>G
  hgvsp: ENST00000284776.7:c.1338C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2753C>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1338C>G
  hgvsp: ENST00000431808.1:c.1338C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala546Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

4-186545234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545234
    reference: chr 4
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1337C>T
  hgvsp: ENSP00000284776.7:p.Ala446Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1637C>T
  hgvsp: ENSP00000347852.5:p.Ala546Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1337C>T
  hgvsp: ENSP00000411764.1:p.Ala446Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1049C>T
  hgvsp: ENSP00000397482.1:p.Ala350Val
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2752C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2752C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala546Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

4-186545234-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545234
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1337C>A
  hgvsp: ENSP00000284776.7:p.Ala446Asp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1637C>A
  hgvsp: ENSP00000347852.5:p.Ala546Asp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1337C>A
  hgvsp: ENSP00000411764.1:p.Ala446Asp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1049C>A
  hgvsp: ENSP00000397482.1:p.Ala350Asp
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2752C>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2752C>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala546Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

4-186545235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545235
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545235
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1636G>A
  hgvsp: ENSP00000347852.5:p.Ala546Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1336G>A
  hgvsp: ENSP00000284776.7:p.Ala446Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1048G>A
  hgvsp: ENSP00000397482.1:p.Ala350Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1336G>A
  hgvsp: ENSP00000411764.1:p.Ala446Thr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2751G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2751G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala546Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-186545236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545236
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545236
    reference: chr 4
allele count: 8
allele frequency: 6.589894396942289e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1335C>T
  hgvsp: ENST00000431808.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1335C>T
  hgvsp: ENST00000284776.7:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1635C>T
  hgvsp: ENST00000355634.5:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1047C>T
  hgvsp: ENST00000418609.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2750C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2750C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn545Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-186545240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545240
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545240
    reference: chr 4
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1043G>A
  hgvsp: ENSP00000397482.1:p.Arg348His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1331G>A
  hgvsp: ENSP00000284776.7:p.Arg444His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1331G>A
  hgvsp: ENSP00000411764.1:p.Arg444His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1631G>A
  hgvsp: ENSP00000347852.5:p.Arg544His
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2746G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2746G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg544His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

4-186545260-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545260
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545260
    reference: chr 4
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1311G>C
  hgvsp: ENSP00000284776.7:p.Arg437Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1311G>C
  hgvsp: ENSP00000411764.1:p.Arg437Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1023G>C
  hgvsp: ENSP00000397482.1:p.Arg341Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1611G>C
  hgvsp: ENSP00000347852.5:p.Arg537Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2726G>C
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2726G>C
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg537Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-186545271-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545271
    reference: chr 4
allele count: 15
allele frequency: 1.235584843492587e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1012G>T
  hgvsp: ENSP00000397482.1:p.Gly338Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1600G>T
  hgvsp: ENSP00000347852.5:p.Gly534Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1300G>T
  hgvsp: ENSP00000284776.7:p.Gly434Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2715G>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1300G>T
  hgvsp: ENSP00000411764.1:p.Gly434Cys
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2715G>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly534Cys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

4-186545271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545271
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545271
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1012G>A
  hgvsp: ENSP00000397482.1:p.Gly338Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1300G>A
  hgvsp: ENSP00000411764.1:p.Gly434Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1300G>A
  hgvsp: ENSP00000284776.7:p.Gly434Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1600G>A
  hgvsp: ENSP00000347852.5:p.Gly534Ser
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2715G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2715G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly534Ser
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: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

4-186545274-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545274
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545274
    reference: chr 4
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1009A>T
  hgvsp: ENSP00000397482.1:p.Asn337Tyr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1297A>T
  hgvsp: ENSP00000284776.7:p.Asn433Tyr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1597A>T
  hgvsp: ENSP00000347852.5:p.Asn533Tyr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1297A>T
  hgvsp: ENSP00000411764.1:p.Asn433Tyr
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2712A>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2712A>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn533Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

4-186545283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545283
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545283
    reference: chr 4
allele count: 31
allele frequency: 2.553626149131767e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1288G>A
  hgvsp: ENSP00000411764.1:p.Val430Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1288G>A
  hgvsp: ENSP00000284776.7:p.Val430Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.1000G>A
  hgvsp: ENSP00000397482.1:p.Val334Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1588G>A
  hgvsp: ENSP00000347852.5:p.Val530Ile
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2703G>A
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2703G>A
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val530Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-186545285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545285
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545285
    reference: chr 4
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.998A>G
  hgvsp: ENSP00000397482.1:p.Glu333Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2701A>G
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1586A>G
  hgvsp: ENSP00000347852.5:p.Glu529Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1286A>G
  hgvsp: ENSP00000284776.7:p.Glu429Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1286A>G
  hgvsp: ENSP00000411764.1:p.Glu429Gly
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2701A>G
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu529Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

4-186545288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 186545288
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 186545288
    reference: chr 4
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397482
  ensembl transcript: ENST00000418609
  gene symbol: SORBS2
  hgvsc: ENST00000418609.1:c.995C>T
  hgvsp: ENSP00000397482.1:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000347852
  ensembl transcript: ENST00000355634
  gene symbol: SORBS2
  hgvsc: ENST00000355634.5:c.1583C>T
  hgvsp: ENSP00000347852.5:p.Pro528Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000389995
  ensembl transcript: ENST00000438278
  gene symbol: SORBS2
  hgvsc: ENST00000438278.1:c.752+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000396008
  ensembl transcript: ENST00000437304
  gene symbol: SORBS2
  hgvsc: ENST00000437304.2:c.1675+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl transcript: ENST00000498125
  gene symbol: SORBS2
  hgvsc: ENST00000498125.1:n.1181+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000322182
  ensembl transcript: ENST00000319471
  gene symbol: SORBS2
  hgvsc: ENST00000319471.9:c.1396+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000284776
  ensembl transcript: ENST00000284776
  gene symbol: SORBS2
  hgvsc: ENST00000284776.7:c.1283C>T
  hgvsp: ENSP00000284776.7:p.Pro428Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000411764
  ensembl transcript: ENST00000431808
  gene symbol: SORBS2
  hgvsc: ENST00000431808.1:c.1283C>T
  hgvsp: ENSP00000411764.1:p.Pro428Leu
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000401818
  ensembl transcript: ENST00000451974
  gene symbol: SORBS2
  hgvsc: ENST00000451974.1:c.550+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000397262
  ensembl transcript: ENST00000449407
  gene symbol: SORBS2
  hgvsc: ENST00000449407.2:c.1135+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000377162
  ensembl transcript: ENST00000393528
  gene symbol: SORBS2
  hgvsc: ENST00000393528.3:c.1201+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000321983
  ensembl transcript: ENST00000319454
  gene symbol: SORBS2
  hgvsc: ENST00000319454.6:c.1276+2698C>T
  variant of: http://identifiers.org/hgnc/24098
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154556
  ensembl protein: ENSP00000409158
  ensembl transcript: ENST00000448662
  gene symbol: SORBS2
  hgvsc: ENST00000448662.2:c.1186+2698C>T
  variant of: http://identifiers.org/hgnc/24098
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro528Leu
num of homozygotes: 0
population: Other
reference allele: G

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.636e1

FS
type: SiteQuality
SIO_000300: 9.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.758e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.752793e6

GenotypeDepth
all individuals: 290
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3625
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 8

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 5

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 9.75e1
variant carriers: 162

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2544
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 9.592613687460656e-4
allele num: 66718
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 92
allele frequency: 1.390988811611733e-2
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.773e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.761533e6

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeDepth
all individuals: 3632
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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East Asian
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Latino
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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MQRankSum
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QD
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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InbreedingCoeff
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QD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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African
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Latino
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East Asian
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South Asian
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VQSLOD
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InbreedingCoeff
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DP
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FS
type: SiteQuality
SIO_000300: 1.24e1

MQ
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SIO_000300: 5.981e1

ReadPosRankSum
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SIO_000300: -1.219e0

ClippingRankSum
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SIO_000300: 2.0e0

BaseQRankSum
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MQRankSum
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SIO_000300: 3.48e-1

QD
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SIO_000300: 7.34e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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

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

European (Non-Finnish)
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allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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SIO_000300: 1.7516e6

BaseQRankSum
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SIO_000300: 2.58e0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
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num of homozygotes: 0

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

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
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FS
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MQ
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SIO_000300: 5.953e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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VQSLOD
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SIO_000300: 6.65e-1

BaseQRankSum
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SIO_000300: -1.686e0

DP
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SIO_000300: 1.751332e6

QD
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SIO_000300: 1.264e1

MQRankSum
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SIO_000300: 2.89e-1

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 1.25e0

MQRankSum
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MQ
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QD
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66730
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Latino
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European (Finnish)
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South Asian
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African
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FS
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QD
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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European (Finnish)
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African
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DP
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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MQRankSum
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QD
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VQSLOD
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MQ
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Other
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Latino
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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BaseQRankSum
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MQ
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FS
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DP
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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MQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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East Asian
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African
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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East Asian
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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East Asian
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QD
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FS
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MQ
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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FS
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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European (Non-Finnish)
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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QD
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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DP
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Finnish)
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Other
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South Asian
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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MQ
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DP
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Other
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
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Other
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African
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European (Non-Finnish)
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allele num: 66724
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Latino
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East Asian
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QD
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

East Asian
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South Asian
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African
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QD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66724
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South Asian
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Other
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Latino
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East Asian
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African
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InbreedingCoeff
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QD
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VQSLOD
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FS
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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QD
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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FS
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MQ
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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African
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South Asian
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MQ
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MQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
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European (Finnish)
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African
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South Asian
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East Asian
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Other
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VQSLOD
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MQ
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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GenotypeQuality
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South Asian
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African
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FS
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MQ
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QD
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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VQSLOD
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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DP
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InbreedingCoeff
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MQRankSum
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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MQ
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FS
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MQRankSum
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QD
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DP
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East Asian
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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DP
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GenotypeDepth
all individuals: 65
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 5

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

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

GenotypeQuality
all individuals: 2481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41472
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9894
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: 31
allele frequency: 2.677954388389772e-3
allele num: 11576
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.752617e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.538e0

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

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

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.750843e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 2.991e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2484
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

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