10-97174281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174281
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174281
    reference: chr 10
allele count: 1
allele frequency: 9.200478424878094e-6
allele num: 108690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.780G>A
  hgvsp: ENST00000371246.2:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.753G>A
  hgvsp: ENST00000354106.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.573G>A
  hgvsp: ENST00000353505.5:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1559G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.573G>A
  hgvsp: ENST00000371245.3:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.780G>A
  hgvsp: ENST00000361941.3:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.753G>A
  hgvsp: ENST00000393949.1:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.780G>A
  hgvsp: ENST00000277982.5:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.780G>A
  hgvsp: ENST00000371247.2:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.780G>A
  hgvsp: ENST00000371227.4:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.684G>A
  hgvsp: ENST00000371249.2:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu260Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

10-97174284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174284
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174284
    reference: chr 10
allele count: 16
allele frequency: 1.471589132314258e-4
allele num: 108726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.681G>A
  hgvsp: ENST00000371249.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.570G>A
  hgvsp: ENST00000353505.5:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.777G>A
  hgvsp: ENST00000371246.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.777G>A
  hgvsp: ENST00000361941.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.777G>A
  hgvsp: ENST00000371227.4:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.750G>A
  hgvsp: ENST00000354106.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.777G>A
  hgvsp: ENST00000277982.5:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1556G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.570G>A
  hgvsp: ENST00000371245.3:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.777G>A
  hgvsp: ENST00000371247.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3750G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+942G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3750G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3750G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3750G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3750G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.750G>A
  hgvsp: ENST00000393949.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser259Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

10-97174285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174285
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174285
    reference: chr 10
allele count: 3
allele frequency: 2.757302255473245e-5
allele num: 108802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.680C>T
  hgvsp: ENSP00000360295.2:p.Ser227Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.776C>T
  hgvsp: ENSP00000360271.3:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.569C>T
  hgvsp: ENSP00000343998.5:p.Ser190Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.776C>T
  hgvsp: ENSP00000355136.3:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1555C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3751C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.776C>T
  hgvsp: ENSP00000360293.2:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3751C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.569C>T
  hgvsp: ENSP00000360291.2:p.Ser190Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.749C>T
  hgvsp: ENSP00000277984.4:p.Ser250Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.776C>T
  hgvsp: ENSP00000360292.2:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+941C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3751C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3751C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3751C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.776C>T
  hgvsp: ENSP00000277982.5:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.749C>T
  hgvsp: ENSP00000377521.1:p.Ser250Leu
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser259Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

10-97174293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174293
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174293
    reference: chr 10
allele count: 1
allele frequency: 9.178690751551199e-6
allele num: 108948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.672C>T
  hgvsp: ENST00000371249.2:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.768C>T
  hgvsp: ENST00000371246.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.768C>T
  hgvsp: ENST00000361941.3:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.768C>T
  hgvsp: ENST00000277982.5:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.741C>T
  hgvsp: ENST00000354106.3:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.561C>T
  hgvsp: ENST00000371245.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.768C>T
  hgvsp: ENST00000371247.2:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.741C>T
  hgvsp: ENST00000393949.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1547C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.561C>T
  hgvsp: ENST00000353505.5:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.768C>T
  hgvsp: ENST00000371227.4:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-97174294-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
allele count: 1
allele frequency: 9.185098096847674e-6
allele num: 108872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.740G>T
  hgvsp: ENSP00000377521.1:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.560G>T
  hgvsp: ENSP00000360291.2:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3760G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.560G>T
  hgvsp: ENSP00000343998.5:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+932G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.767G>T
  hgvsp: ENSP00000360293.2:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3760G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.767G>T
  hgvsp: ENSP00000360292.2:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.671G>T
  hgvsp: ENSP00000360295.2:p.Arg224Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.740G>T
  hgvsp: ENSP00000277984.4:p.Arg247Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3760G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.767G>T
  hgvsp: ENSP00000277982.5:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.767G>T
  hgvsp: ENSP00000360271.3:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.767G>T
  hgvsp: ENSP00000355136.3:p.Arg256Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1546G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3760G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3760G>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

10-97174294-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
allele count: 1
allele frequency: 9.185098096847674e-6
allele num: 108872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.767G>C
  hgvsp: ENSP00000360292.2:p.Arg256Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.560G>C
  hgvsp: ENSP00000343998.5:p.Arg187Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.767G>C
  hgvsp: ENSP00000277982.5:p.Arg256Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3760G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3760G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.767G>C
  hgvsp: ENSP00000355136.3:p.Arg256Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.560G>C
  hgvsp: ENSP00000360291.2:p.Arg187Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.767G>C
  hgvsp: ENSP00000360293.2:p.Arg256Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.740G>C
  hgvsp: ENSP00000377521.1:p.Arg247Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3760G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3760G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.671G>C
  hgvsp: ENSP00000360295.2:p.Arg224Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.740G>C
  hgvsp: ENSP00000277984.4:p.Arg247Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+932G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1546G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.767G>C
  hgvsp: ENSP00000360271.3:p.Arg256Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3760G>C
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

10-97174294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174294
    reference: chr 10
allele count: 2
allele frequency: 1.837019619369535e-5
allele num: 108872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.767G>A
  hgvsp: ENSP00000360293.2:p.Arg256His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.740G>A
  hgvsp: ENSP00000277984.4:p.Arg247His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+932G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1546G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.767G>A
  hgvsp: ENSP00000360292.2:p.Arg256His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3760G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.671G>A
  hgvsp: ENSP00000360295.2:p.Arg224His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3760G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.767G>A
  hgvsp: ENSP00000360271.3:p.Arg256His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.560G>A
  hgvsp: ENSP00000343998.5:p.Arg187His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.767G>A
  hgvsp: ENSP00000355136.3:p.Arg256His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.560G>A
  hgvsp: ENSP00000360291.2:p.Arg187His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.740G>A
  hgvsp: ENSP00000377521.1:p.Arg247His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3760G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.767G>A
  hgvsp: ENSP00000277982.5:p.Arg256His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3760G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3760G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-97174295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174295
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174295
    reference: chr 10
allele count: 1
allele frequency: 9.173302021795765e-6
allele num: 109012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3761C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1545C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3761C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.766C>T
  hgvsp: ENSP00000277982.5:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.670C>T
  hgvsp: ENSP00000360295.2:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.766C>T
  hgvsp: ENSP00000360292.2:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.766C>T
  hgvsp: ENSP00000360293.2:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.766C>T
  hgvsp: ENSP00000360271.3:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.766C>T
  hgvsp: ENSP00000355136.3:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.739C>T
  hgvsp: ENSP00000277984.4:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.559C>T
  hgvsp: ENSP00000360291.2:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.559C>T
  hgvsp: ENSP00000343998.5:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3761C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3761C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+931C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3761C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.739C>T
  hgvsp: ENSP00000377521.1:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

10-97174296-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174296
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174296
    reference: chr 10
allele count: 1
allele frequency: 9.172460604281705e-6
allele num: 109022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.765C>A
  hgvsp: ENST00000361941.3:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3762C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.558C>A
  hgvsp: ENST00000371245.3:c.558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.765C>A
  hgvsp: ENST00000371227.4:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1544C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3762C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.738C>A
  hgvsp: ENST00000354106.3:c.738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3762C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.765C>A
  hgvsp: ENST00000371246.2:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.558C>A
  hgvsp: ENST00000353505.5:c.558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.765C>A
  hgvsp: ENST00000371247.2:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.765C>A
  hgvsp: ENST00000277982.5:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3762C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3762C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+930C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.669C>A
  hgvsp: ENST00000371249.2:c.669C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.738C>A
  hgvsp: ENST00000393949.1:c.738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu255Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

10-97174297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174297
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174297
    reference: chr 10
allele count: 1
allele frequency: 9.169600938967136e-6
allele num: 109056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.737T>C
  hgvsp: ENSP00000377521.1:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.764T>C
  hgvsp: ENSP00000355136.3:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.764T>C
  hgvsp: ENSP00000360292.2:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.764T>C
  hgvsp: ENSP00000360271.3:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.764T>C
  hgvsp: ENSP00000277982.5:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.764T>C
  hgvsp: ENSP00000360293.2:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3763T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.668T>C
  hgvsp: ENSP00000360295.2:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3763T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+929T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.557T>C
  hgvsp: ENSP00000343998.5:p.Leu186Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.557T>C
  hgvsp: ENSP00000360291.2:p.Leu186Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3763T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1543T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.737T>C
  hgvsp: ENSP00000277984.4:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3763T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3763T>C
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu255Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

10-97174302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174302
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174302
    reference: chr 10
allele count: 2
allele frequency: 1.833449451798614e-5
allele num: 109084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.759G>A
  hgvsp: ENST00000371247.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.663G>A
  hgvsp: ENST00000371249.2:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.759G>A
  hgvsp: ENST00000361941.3:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3768G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3768G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.552G>A
  hgvsp: ENST00000371245.3:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.759G>A
  hgvsp: ENST00000371227.4:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.759G>A
  hgvsp: ENST00000277982.5:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1538G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.732G>A
  hgvsp: ENST00000393949.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3768G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.759G>A
  hgvsp: ENST00000371246.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+924G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3768G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3768G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.732G>A
  hgvsp: ENST00000354106.3:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.552G>A
  hgvsp: ENST00000353505.5:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu253Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

10-97174303-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174303
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174303
    reference: chr 10
allele count: 1
allele frequency: 9.166743056192134e-6
allele num: 109090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1537A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.758A>G
  hgvsp: ENSP00000355136.3:p.Glu253Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.758A>G
  hgvsp: ENSP00000360292.2:p.Glu253Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.758A>G
  hgvsp: ENSP00000360293.2:p.Glu253Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.551A>G
  hgvsp: ENSP00000360291.2:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.731A>G
  hgvsp: ENSP00000277984.4:p.Glu244Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.758A>G
  hgvsp: ENSP00000360271.3:p.Glu253Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.551A>G
  hgvsp: ENSP00000343998.5:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3769A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3769A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.758A>G
  hgvsp: ENSP00000277982.5:p.Glu253Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.731A>G
  hgvsp: ENSP00000377521.1:p.Glu244Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3769A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3769A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3769A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+923A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.662A>G
  hgvsp: ENSP00000360295.2:p.Glu221Gly
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu253Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

10-97174305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174305
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174305
    reference: chr 10
allele count: 1
allele frequency: 9.16791961568081e-6
allele num: 109076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.549G>A
  hgvsp: ENST00000371245.3:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.729G>A
  hgvsp: ENST00000393949.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3771G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+921G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.756G>A
  hgvsp: ENST00000361941.3:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.756G>A
  hgvsp: ENST00000371227.4:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1535G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.756G>A
  hgvsp: ENST00000277982.5:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.756G>A
  hgvsp: ENST00000371247.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3771G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.660G>A
  hgvsp: ENST00000371249.2:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.756G>A
  hgvsp: ENST00000371246.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.549G>A
  hgvsp: ENST00000353505.5:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3771G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.729G>A
  hgvsp: ENST00000354106.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3771G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3771G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro252Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

10-97174306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174306
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174306
    reference: chr 10
allele count: 1513
allele frequency: 1.384922378441711e-2
allele num: 109248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3772C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.548C>T
  hgvsp: ENSP00000360291.2:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3772C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.755C>T
  hgvsp: ENSP00000360271.3:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.755C>T
  hgvsp: ENSP00000277982.5:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1534C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.728C>T
  hgvsp: ENSP00000377521.1:p.Pro243Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.755C>T
  hgvsp: ENSP00000360293.2:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.755C>T
  hgvsp: ENSP00000360292.2:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.755C>T
  hgvsp: ENSP00000355136.3:p.Pro252Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+920C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.548C>T
  hgvsp: ENSP00000343998.5:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.728C>T
  hgvsp: ENSP00000277984.4:p.Pro243Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.659C>T
  hgvsp: ENSP00000360295.2:p.Pro220Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3772C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3772C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3772C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Pro252Leu
num of homozygotes: 14
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

10-97174316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174316
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174316
    reference: chr 10
allele count: 2
allele frequency: 1.825483753194597e-5
allele num: 109560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.745C>T
  hgvsp: ENSP00000277982.5:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.745C>T
  hgvsp: ENSP00000360293.2:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.649C>T
  hgvsp: ENSP00000360295.2:p.Pro217Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.745C>T
  hgvsp: ENSP00000355136.3:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.538C>T
  hgvsp: ENSP00000360291.2:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3782C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.718C>T
  hgvsp: ENSP00000377521.1:p.Pro240Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3782C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1524C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+910C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.745C>T
  hgvsp: ENSP00000360292.2:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3782C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.745C>T
  hgvsp: ENSP00000360271.3:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.538C>T
  hgvsp: ENSP00000343998.5:p.Pro180Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.718C>T
  hgvsp: ENSP00000277984.4:p.Pro240Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3782C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3782C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro249Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

10-97174316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174316
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174316
    reference: chr 10
allele count: 224
allele frequency: 2.044541803577948e-3
allele num: 109560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.745C>A
  hgvsp: ENSP00000355136.3:p.Pro249Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3782C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.745C>A
  hgvsp: ENSP00000360271.3:p.Pro249Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3782C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.718C>A
  hgvsp: ENSP00000377521.1:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.745C>A
  hgvsp: ENSP00000360293.2:p.Pro249Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1524C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.718C>A
  hgvsp: ENSP00000277984.4:p.Pro240Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3782C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.745C>A
  hgvsp: ENSP00000277982.5:p.Pro249Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.538C>A
  hgvsp: ENSP00000343998.5:p.Pro180Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.745C>A
  hgvsp: ENSP00000360292.2:p.Pro249Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.538C>A
  hgvsp: ENSP00000360291.2:p.Pro180Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.649C>A
  hgvsp: ENSP00000360295.2:p.Pro217Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+910C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3782C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3782C>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro249Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

10-97174323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174323
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174323
    reference: chr 10
allele count: 1
allele frequency: 9.116435109214892e-6
allele num: 109692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.738G>A
  hgvsp: ENST00000361941.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.711G>A
  hgvsp: ENST00000354106.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.738G>A
  hgvsp: ENST00000371247.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.531G>A
  hgvsp: ENST00000371245.3:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.711G>A
  hgvsp: ENST00000393949.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.531G>A
  hgvsp: ENST00000353505.5:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3789G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+903G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.738G>A
  hgvsp: ENST00000371246.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1517G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3789G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3789G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3789G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.642G>A
  hgvsp: ENST00000371249.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.738G>A
  hgvsp: ENST00000371227.4:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.738G>A
  hgvsp: ENST00000277982.5:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3789G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro246Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

10-97174324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174324
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174324
    reference: chr 10
allele count: 4
allele frequency: 3.639871148561341e-5
allele num: 109894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3790C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3790C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.530C>T
  hgvsp: ENSP00000343998.5:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.737C>T
  hgvsp: ENSP00000355136.3:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3790C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.530C>T
  hgvsp: ENSP00000360291.2:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.641C>T
  hgvsp: ENSP00000360295.2:p.Pro214Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.737C>T
  hgvsp: ENSP00000360293.2:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.737C>T
  hgvsp: ENSP00000360271.3:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.710C>T
  hgvsp: ENSP00000377521.1:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3790C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.737C>T
  hgvsp: ENSP00000360292.2:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+902C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.710C>T
  hgvsp: ENSP00000277984.4:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3790C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1516C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.737C>T
  hgvsp: ENSP00000277982.5:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro246Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

10-97174328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174328
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174328
    reference: chr 10
allele count: 1
allele frequency: 9.074904259760059e-6
allele num: 110194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.637C>T
  hgvsp: ENSP00000360295.2:p.Pro213Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.733C>T
  hgvsp: ENSP00000360292.2:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.733C>T
  hgvsp: ENSP00000360271.3:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.733C>T
  hgvsp: ENSP00000277982.5:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1512C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3794C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.526C>T
  hgvsp: ENSP00000343998.5:p.Pro176Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.733C>T
  hgvsp: ENSP00000355136.3:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3794C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.706C>T
  hgvsp: ENSP00000277984.4:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.526C>T
  hgvsp: ENSP00000360291.2:p.Pro176Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3794C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+898C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.706C>T
  hgvsp: ENSP00000377521.1:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3794C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3794C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.733C>T
  hgvsp: ENSP00000360293.2:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro245Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-97174330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174330
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174330
    reference: chr 10
allele count: 4
allele frequency: 3.617748674999548e-5
allele num: 110566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.731C>T
  hgvsp: ENSP00000277982.5:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3796C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.731C>T
  hgvsp: ENSP00000355136.3:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.704C>T
  hgvsp: ENSP00000277984.4:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+896C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.524C>T
  hgvsp: ENSP00000360291.2:p.Pro175Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.731C>T
  hgvsp: ENSP00000360292.2:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.635C>T
  hgvsp: ENSP00000360295.2:p.Pro212Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3796C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.524C>T
  hgvsp: ENSP00000343998.5:p.Pro175Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3796C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3796C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3796C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.731C>T
  hgvsp: ENSP00000360293.2:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.731C>T
  hgvsp: ENSP00000360271.3:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.704C>T
  hgvsp: ENSP00000377521.1:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1510C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro244Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

10-97174331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174331
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174331
    reference: chr 10
allele count: 3
allele frequency: 2.713115198871344e-5
allele num: 110574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+895C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3797C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.730C>T
  hgvsp: ENSP00000277982.5:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.730C>T
  hgvsp: ENSP00000360271.3:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.703C>T
  hgvsp: ENSP00000277984.4:p.Pro235Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.730C>T
  hgvsp: ENSP00000360292.2:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1509C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.730C>T
  hgvsp: ENSP00000355136.3:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.634C>T
  hgvsp: ENSP00000360295.2:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.523C>T
  hgvsp: ENSP00000343998.5:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.523C>T
  hgvsp: ENSP00000360291.2:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3797C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.703C>T
  hgvsp: ENSP00000377521.1:p.Pro235Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3797C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.730C>T
  hgvsp: ENSP00000360293.2:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3797C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3797C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro244Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

10-97174341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174341
    reference: chr 10
allele count: 1
allele frequency: 8.990380293086398e-6
allele num: 111230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.693C>T
  hgvsp: ENST00000393949.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.720C>T
  hgvsp: ENST00000371247.2:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3807C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.513C>T
  hgvsp: ENST00000353505.5:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3807C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.693C>T
  hgvsp: ENST00000354106.3:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1499C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.624C>T
  hgvsp: ENST00000371249.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3807C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.513C>T
  hgvsp: ENST00000371245.3:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.720C>T
  hgvsp: ENST00000371227.4:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.720C>T
  hgvsp: ENST00000371246.2:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3807C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.720C>T
  hgvsp: ENST00000277982.5:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.720C>T
  hgvsp: ENST00000361941.3:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+885C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3807C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser240Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

10-97174350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174350
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174350
    reference: chr 10
allele count: 2
allele frequency: 1.792821542543655e-5
allele num: 111556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.684G>A
  hgvsp: ENST00000393949.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1490G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.711G>A
  hgvsp: ENST00000371227.4:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.711G>A
  hgvsp: ENST00000371246.2:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3816G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.711G>A
  hgvsp: ENST00000277982.5:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.615G>A
  hgvsp: ENST00000371249.2:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3816G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.504G>A
  hgvsp: ENST00000371245.3:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.504G>A
  hgvsp: ENST00000353505.5:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.711G>A
  hgvsp: ENST00000361941.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3816G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+876G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.711G>A
  hgvsp: ENST00000371247.2:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3816G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3816G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.684G>A
  hgvsp: ENST00000354106.3:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13462
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr237Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

10-97174351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174351
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174351
    reference: chr 10
allele count: 7
allele frequency: 6.243756243756244e-5
allele num: 112112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.614C>T
  hgvsp: ENSP00000360295.2:p.Thr205Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3817C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.683C>T
  hgvsp: ENSP00000377521.1:p.Thr228Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.710C>T
  hgvsp: ENSP00000360292.2:p.Thr237Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3817C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1489C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.710C>T
  hgvsp: ENSP00000355136.3:p.Thr237Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3817C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.710C>T
  hgvsp: ENSP00000360293.2:p.Thr237Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.683C>T
  hgvsp: ENSP00000277984.4:p.Thr228Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.503C>T
  hgvsp: ENSP00000343998.5:p.Thr168Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.503C>T
  hgvsp: ENSP00000360291.2:p.Thr168Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3817C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.710C>T
  hgvsp: ENSP00000360271.3:p.Thr237Met
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+875C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3817C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.710C>T
  hgvsp: ENSP00000277982.5:p.Thr237Met
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr237Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

10-97174352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174352
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174352
    reference: chr 10
allele count: 10130
allele frequency: 8.937551834271497e-2
allele num: 113342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.709A>G
  hgvsp: ENSP00000355136.3:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.682A>G
  hgvsp: ENSP00000377521.1:p.Thr228Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.709A>G
  hgvsp: ENSP00000277982.5:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.709A>G
  hgvsp: ENSP00000360292.2:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3818A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.709A>G
  hgvsp: ENSP00000360271.3:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.613A>G
  hgvsp: ENSP00000360295.2:p.Thr205Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1488A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.502A>G
  hgvsp: ENSP00000360291.2:p.Thr168Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.682A>G
  hgvsp: ENSP00000277984.4:p.Thr228Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.709A>G
  hgvsp: ENSP00000360293.2:p.Thr237Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+874A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3818A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3818A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3818A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3818A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.502A>G
  hgvsp: ENSP00000343998.5:p.Thr168Ala
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 7.5e0
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 1160
genotype quality: GenotypeQuality
hgvs: p.Thr237Ala
num of homozygotes: 779
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

10-97174362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174362
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174362
    reference: chr 10
allele count: 2
allele frequency: 1.744804843578246e-5
allele num: 114626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.672C>T
  hgvsp: ENST00000354106.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.492C>T
  hgvsp: ENST00000371245.3:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+864C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.699C>T
  hgvsp: ENST00000277982.5:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3828C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.699C>T
  hgvsp: ENST00000371246.2:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.492C>T
  hgvsp: ENST00000353505.5:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3828C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1478C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3828C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.699C>T
  hgvsp: ENST00000361941.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.699C>T
  hgvsp: ENST00000371247.2:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.699C>T
  hgvsp: ENST00000371227.4:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3828C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3828C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.672C>T
  hgvsp: ENST00000393949.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.603C>T
  hgvsp: ENST00000371249.2:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro233Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

10-97174364-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174364
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174364
    reference: chr 10
allele count: 1
allele frequency: 8.702159876081243e-6
allele num: 114914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.670C>G
  hgvsp: ENSP00000277984.4:p.Pro224Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.490C>G
  hgvsp: ENSP00000343998.5:p.Pro164Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1476C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+862C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.697C>G
  hgvsp: ENSP00000360271.3:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.601C>G
  hgvsp: ENSP00000360295.2:p.Pro201Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3830C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.697C>G
  hgvsp: ENSP00000277982.5:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.697C>G
  hgvsp: ENSP00000360293.2:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.670C>G
  hgvsp: ENSP00000377521.1:p.Pro224Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.490C>G
  hgvsp: ENSP00000360291.2:p.Pro164Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.697C>G
  hgvsp: ENSP00000360292.2:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3830C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3830C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3830C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.697C>G
  hgvsp: ENSP00000355136.3:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3830C>G
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro233Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

10-97174366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174366
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174366
    reference: chr 10
allele count: 1
allele frequency: 8.697769891799743e-6
allele num: 114972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3832C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.695C>T
  hgvsp: ENSP00000277982.5:p.Ala232Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3832C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1474C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.599C>T
  hgvsp: ENSP00000360295.2:p.Ala200Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3832C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.488C>T
  hgvsp: ENSP00000360291.2:p.Ala163Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.668C>T
  hgvsp: ENSP00000277984.4:p.Ala223Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.695C>T
  hgvsp: ENSP00000360271.3:p.Ala232Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.695C>T
  hgvsp: ENSP00000360292.2:p.Ala232Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.695C>T
  hgvsp: ENSP00000360293.2:p.Ala232Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.668C>T
  hgvsp: ENSP00000377521.1:p.Ala223Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.695C>T
  hgvsp: ENSP00000355136.3:p.Ala232Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3832C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3832C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.488C>T
  hgvsp: ENSP00000343998.5:p.Ala163Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+860C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala232Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

10-97174374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174374
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174374
    reference: chr 10
allele count: 1
allele frequency: 8.607629803057431e-6
allele num: 116176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.480C>T
  hgvsp: ENST00000353505.5:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.687C>T
  hgvsp: ENST00000361941.3:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.660C>T
  hgvsp: ENST00000393949.1:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.687C>T
  hgvsp: ENST00000371247.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.687C>T
  hgvsp: ENST00000371246.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.591C>T
  hgvsp: ENST00000371249.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.687C>T
  hgvsp: ENST00000371227.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.480C>T
  hgvsp: ENST00000371245.3:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.687C>T
  hgvsp: ENST00000277982.5:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.660C>T
  hgvsp: ENST00000354106.3:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1466C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly229Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

10-97174379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174379
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174379
    reference: chr 10
allele count: 1
allele frequency: 8.538542983025377e-6
allele num: 117116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.655T>C
  hgvsp: ENSP00000377521.1:p.Ser219Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.682T>C
  hgvsp: ENSP00000360271.3:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.682T>C
  hgvsp: ENSP00000360293.2:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.475T>C
  hgvsp: ENSP00000360291.2:p.Ser159Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3845T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.655T>C
  hgvsp: ENSP00000277984.4:p.Ser219Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.682T>C
  hgvsp: ENSP00000360292.2:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+847T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.682T>C
  hgvsp: ENSP00000277982.5:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3845T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1461T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3845T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.475T>C
  hgvsp: ENSP00000343998.5:p.Ser159Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.586T>C
  hgvsp: ENSP00000360295.2:p.Ser196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.682T>C
  hgvsp: ENSP00000355136.3:p.Ser228Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3845T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3845T>C
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser228Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-97174382-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174382
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174382
    reference: chr 10
allele count: 1
allele frequency: 8.535627710061798e-6
allele num: 117156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.679G>T
  hgvsp: ENSP00000355136.3:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1458G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.652G>T
  hgvsp: ENSP00000277984.4:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.583G>T
  hgvsp: ENSP00000360295.2:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3848G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.679G>T
  hgvsp: ENSP00000360271.3:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.679G>T
  hgvsp: ENSP00000360292.2:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.472G>T
  hgvsp: ENSP00000343998.5:p.Ala158Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3848G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3848G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.679G>T
  hgvsp: ENSP00000360293.2:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+844G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.472G>T
  hgvsp: ENSP00000360291.2:p.Ala158Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3848G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.679G>T
  hgvsp: ENSP00000277982.5:p.Ala227Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3848G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.652G>T
  hgvsp: ENSP00000377521.1:p.Ala218Ser
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala227Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

10-97174383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174383
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174383
    reference: chr 10
allele count: 5
allele frequency: 4.249460318539545e-5
allele num: 117662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.678C>T
  hgvsp: ENST00000277982.5:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+843C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.651C>T
  hgvsp: ENST00000354106.3:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1457C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3849C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.471C>T
  hgvsp: ENST00000353505.5:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3849C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.651C>T
  hgvsp: ENST00000393949.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.678C>T
  hgvsp: ENST00000361941.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.678C>T
  hgvsp: ENST00000371247.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.678C>T
  hgvsp: ENST00000371246.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3849C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3849C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.582C>T
  hgvsp: ENST00000371249.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3849C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.471C>T
  hgvsp: ENST00000371245.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.678C>T
  hgvsp: ENST00000371227.4:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg226Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

10-97174384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174384
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174384
    reference: chr 10
allele count: 1
allele frequency: 8.486226853816256e-6
allele num: 117838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.677G>A
  hgvsp: ENSP00000360292.2:p.Arg226His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.470G>A
  hgvsp: ENSP00000343998.5:p.Arg157His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3850G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.677G>A
  hgvsp: ENSP00000360293.2:p.Arg226His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.677G>A
  hgvsp: ENSP00000277982.5:p.Arg226His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3850G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3850G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.677G>A
  hgvsp: ENSP00000355136.3:p.Arg226His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.470G>A
  hgvsp: ENSP00000360291.2:p.Arg157His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.677G>A
  hgvsp: ENSP00000360271.3:p.Arg226His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+842G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.650G>A
  hgvsp: ENSP00000277984.4:p.Arg217His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.650G>A
  hgvsp: ENSP00000377521.1:p.Arg217His
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1456G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3850G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3850G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.581G>A
  hgvsp: ENSP00000360295.2:p.Arg194His
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg226His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

10-97174385-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174385
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174385
    reference: chr 10
allele count: 37
allele frequency: 3.129916930312822e-4
allele num: 118214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.676C>G
  hgvsp: ENSP00000277982.5:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.469C>G
  hgvsp: ENSP00000343998.5:p.Arg157Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.676C>G
  hgvsp: ENSP00000355136.3:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3851C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3851C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.676C>G
  hgvsp: ENSP00000360293.2:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3851C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.649C>G
  hgvsp: ENSP00000377521.1:p.Arg217Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3851C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.649C>G
  hgvsp: ENSP00000277984.4:p.Arg217Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3851C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.469C>G
  hgvsp: ENSP00000360291.2:p.Arg157Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+841C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.676C>G
  hgvsp: ENSP00000360271.3:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.676C>G
  hgvsp: ENSP00000360292.2:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1455C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.580C>G
  hgvsp: ENSP00000360295.2:p.Arg194Gly
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg226Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

10-97174386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174386
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174386
    reference: chr 10
allele count: 2
allele frequency: 1.690502755519491e-5
allele num: 118308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.468C>T
  hgvsp: ENST00000371245.3:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.579C>T
  hgvsp: ENST00000371249.2:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+840C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.675C>T
  hgvsp: ENST00000371246.2:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1454C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.675C>T
  hgvsp: ENST00000277982.5:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.468C>T
  hgvsp: ENST00000353505.5:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.648C>T
  hgvsp: ENST00000354106.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.675C>T
  hgvsp: ENST00000371247.2:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.675C>T
  hgvsp: ENST00000361941.3:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3852C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.675C>T
  hgvsp: ENST00000371227.4:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.648C>T
  hgvsp: ENST00000393949.1:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala225Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

10-97174396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174396
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174396
    reference: chr 10
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3862G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1444G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.665G>A
  hgvsp: ENSP00000360293.2:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.665G>A
  hgvsp: ENSP00000360292.2:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3862G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.665G>A
  hgvsp: ENSP00000355136.3:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.638G>A
  hgvsp: ENSP00000377521.1:p.Ser213Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.458G>A
  hgvsp: ENSP00000360291.2:p.Ser153Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.458G>A
  hgvsp: ENSP00000343998.5:p.Ser153Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.638G>A
  hgvsp: ENSP00000277984.4:p.Ser213Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+830G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.665G>A
  hgvsp: ENSP00000277982.5:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3862G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3862G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.665G>A
  hgvsp: ENSP00000360271.3:p.Ser222Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.569G>A
  hgvsp: ENSP00000360295.2:p.Ser190Asn
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3862G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser222Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

10-97174404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174404
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174404
    reference: chr 10
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.630C>T
  hgvsp: ENST00000393949.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+822C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3870C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.561C>T
  hgvsp: ENST00000371249.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.657C>T
  hgvsp: ENST00000277982.5:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.657C>T
  hgvsp: ENST00000361941.3:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.630C>T
  hgvsp: ENST00000354106.3:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.657C>T
  hgvsp: ENST00000371227.4:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.657C>T
  hgvsp: ENST00000371247.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.657C>T
  hgvsp: ENST00000371246.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.450C>T
  hgvsp: ENST00000371245.3:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3870C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.450C>T
  hgvsp: ENST00000353505.5:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3870C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3870C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1436C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3870C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro219Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-97174408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174408
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174408
    reference: chr 10
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.653G>A
  hgvsp: ENSP00000355136.3:p.Trp218Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3874G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.557G>A
  hgvsp: ENSP00000360295.2:p.Trp186Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3874G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.626G>A
  hgvsp: ENSP00000377521.1:p.Trp209Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.653G>A
  hgvsp: ENSP00000360292.2:p.Trp218Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+818G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.653G>A
  hgvsp: ENSP00000277982.5:p.Trp218Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3874G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.446G>A
  hgvsp: ENSP00000343998.5:p.Trp149Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.626G>A
  hgvsp: ENSP00000277984.4:p.Trp209Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.653G>A
  hgvsp: ENSP00000360271.3:p.Trp218Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3874G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.446G>A
  hgvsp: ENSP00000360291.2:p.Trp149Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.653G>A
  hgvsp: ENSP00000360293.2:p.Trp218Ter
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1432G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3874G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp218Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/10-97174409-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174409
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174409
    reference: chr 10
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.652T>G
  hgvsp: ENSP00000360292.2:p.Trp218Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3875T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+817T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.652T>G
  hgvsp: ENSP00000355136.3:p.Trp218Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.445T>G
  hgvsp: ENSP00000343998.5:p.Trp149Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.625T>G
  hgvsp: ENSP00000377521.1:p.Trp209Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.625T>G
  hgvsp: ENSP00000277984.4:p.Trp209Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.652T>G
  hgvsp: ENSP00000360293.2:p.Trp218Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.556T>G
  hgvsp: ENSP00000360295.2:p.Trp186Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3875T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.445T>G
  hgvsp: ENSP00000360291.2:p.Trp149Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.652T>G
  hgvsp: ENSP00000360271.3:p.Trp218Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1431T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.652T>G
  hgvsp: ENSP00000277982.5:p.Trp218Gly
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3875T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3875T>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3875T>G
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp218Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

10-97174413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174413
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174413
    reference: chr 10
allele count: 66
allele frequency: 5.484369546791644e-4
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.648G>A
  hgvsp: ENST00000371227.4:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3879G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3879G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3879G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-1G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3879G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.648G>A
  hgvsp: ENST00000371246.2:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.552G>A
  hgvsp: ENST00000371249.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.621G>A
  hgvsp: ENST00000393949.1:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.648G>A
  hgvsp: ENST00000371247.2:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1427G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3879G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.621G>A
  hgvsp: ENST00000354106.3:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-1G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.648G>A
  hgvsp: ENST00000361941.3:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.648G>A
  hgvsp: ENST00000277982.5:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+813G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: c.442-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

10-97174422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174422
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174422
    reference: chr 10
allele count: 131
allele frequency: 1.085173710631389e-3
allele num: 120718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3888T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.639T>C
  hgvsp: ENST00000371227.4:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.639T>C
  hgvsp: ENST00000361941.3:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.639T>C
  hgvsp: ENST00000371246.2:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3888T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3888T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.639T>C
  hgvsp: ENST00000371247.2:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.639T>C
  hgvsp: ENST00000277982.5:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-10T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-10T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+804T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3888T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.543T>C
  hgvsp: ENST00000371249.2:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3888T>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.612T>C
  hgvsp: ENST00000393949.1:c.612T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.612T>C
  hgvsp: ENST00000354106.3:c.612T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1418T>C
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15293
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro213Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/10-97174439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174439
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174439
    reference: chr 10
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3905G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.622G>T
  hgvsp: ENSP00000360271.3:p.Asp208Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.622G>T
  hgvsp: ENSP00000360292.2:p.Asp208Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3905G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.622G>T
  hgvsp: ENSP00000355136.3:p.Asp208Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.526G>T
  hgvsp: ENSP00000360295.2:p.Asp176Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.622G>T
  hgvsp: ENSP00000277982.5:p.Asp208Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.622G>T
  hgvsp: ENSP00000360293.2:p.Asp208Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.595G>T
  hgvsp: ENSP00000377521.1:p.Asp199Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1401G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-27G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+787G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3905G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3905G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3905G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.595G>T
  hgvsp: ENSP00000277984.4:p.Asp199Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-27G>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp208Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

10-97174447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174447
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174447
    reference: chr 10
allele count: 3
allele frequency: 2.476637057094739e-5
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.518C>T
  hgvsp: ENSP00000360295.2:p.Pro173Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.587C>T
  hgvsp: ENSP00000377521.1:p.Pro196Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.614C>T
  hgvsp: ENSP00000355136.3:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3913C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.614C>T
  hgvsp: ENSP00000360292.2:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3913C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.587C>T
  hgvsp: ENSP00000277984.4:p.Pro196Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-35C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.614C>T
  hgvsp: ENSP00000277982.5:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.614C>T
  hgvsp: ENSP00000360293.2:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.614C>T
  hgvsp: ENSP00000360271.3:p.Pro205Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3913C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3913C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+779C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3913C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-35C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1393C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro205Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

10-97174450-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174450
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174450
    reference: chr 10
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-38T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3916T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.611T>A
  hgvsp: ENSP00000360271.3:p.Phe204Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3916T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1390T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+776T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.611T>A
  hgvsp: ENSP00000360293.2:p.Phe204Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.611T>A
  hgvsp: ENSP00000355136.3:p.Phe204Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.515T>A
  hgvsp: ENSP00000360295.2:p.Phe172Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.584T>A
  hgvsp: ENSP00000277984.4:p.Phe195Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.584T>A
  hgvsp: ENSP00000377521.1:p.Phe195Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.611T>A
  hgvsp: ENSP00000360292.2:p.Phe204Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3916T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.611T>A
  hgvsp: ENSP00000277982.5:p.Phe204Tyr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-38T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3916T>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3916T>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe204Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

10-97174452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174452
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174452
    reference: chr 10
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.609C>T
  hgvsp: ENST00000371246.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.609C>T
  hgvsp: ENST00000371247.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3918C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.609C>T
  hgvsp: ENST00000361941.3:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3918C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-40C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.582C>T
  hgvsp: ENST00000393949.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1388C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+774C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3918C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3918C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-40C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.609C>T
  hgvsp: ENST00000371227.4:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.609C>T
  hgvsp: ENST00000277982.5:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.582C>T
  hgvsp: ENST00000354106.3:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.513C>T
  hgvsp: ENST00000371249.2:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3918C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr203Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

10-97174457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174457
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174457
    reference: chr 10
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3923C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-45C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.604C>T
  hgvsp: ENST00000371246.2:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.604C>T
  hgvsp: ENST00000277982.5:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3923C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1383C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.604C>T
  hgvsp: ENST00000371247.2:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3923C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.508C>T
  hgvsp: ENST00000371249.2:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.604C>T
  hgvsp: ENST00000371227.4:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-45C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.577C>T
  hgvsp: ENST00000393949.1:c.577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.577C>T
  hgvsp: ENST00000354106.3:c.577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3923C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.604C>T
  hgvsp: ENST00000361941.3:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+769C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3923C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu202Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

10-97174460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174460
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174460
    reference: chr 10
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.574C>T
  hgvsp: ENSP00000377521.1:p.Pro192Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.601C>T
  hgvsp: ENSP00000360292.2:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.574C>T
  hgvsp: ENSP00000277984.4:p.Pro192Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.601C>T
  hgvsp: ENSP00000355136.3:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+766C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-48C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3926C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.601C>T
  hgvsp: ENSP00000277982.5:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1380C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3926C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-48C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.601C>T
  hgvsp: ENSP00000360293.2:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.601C>T
  hgvsp: ENSP00000360271.3:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3926C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3926C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.505C>T
  hgvsp: ENSP00000360295.2:p.Pro169Ser
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3926C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro201Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

10-97174464-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174464
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174464
    reference: chr 10
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-52C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3930C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.597C>G
  hgvsp: ENST00000277982.5:c.597C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.597C>G
  hgvsp: ENST00000361941.3:c.597C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.597C>G
  hgvsp: ENST00000371247.2:c.597C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3930C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.570C>G
  hgvsp: ENST00000393949.1:c.570C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1376C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3930C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.597C>G
  hgvsp: ENST00000371227.4:c.597C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.501C>G
  hgvsp: ENST00000371249.2:c.501C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.597C>G
  hgvsp: ENST00000371246.2:c.597C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3930C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-52C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3930C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.570C>G
  hgvsp: ENST00000354106.3:c.570C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+762C>G
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala199Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-97174467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174467
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174467
    reference: chr 10
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+759C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.594C>T
  hgvsp: ENST00000361941.3:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1373C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.498C>T
  hgvsp: ENST00000371249.2:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.567C>T
  hgvsp: ENST00000393949.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.594C>T
  hgvsp: ENST00000371246.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-55C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.594C>T
  hgvsp: ENST00000371227.4:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.567C>T
  hgvsp: ENST00000354106.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.594C>T
  hgvsp: ENST00000277982.5:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3933C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-55C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.594C>T
  hgvsp: ENST00000371247.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala198Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

10-97174467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174467
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174467
    reference: chr 10
allele count: 18
allele frequency: 1.484536082474227e-4
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.594C>G
  hgvsp: ENST00000371246.2:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.498C>G
  hgvsp: ENST00000371249.2:c.498C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3933C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-55C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3933C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3933C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.594C>G
  hgvsp: ENST00000361941.3:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+759C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-55C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.594C>G
  hgvsp: ENST00000371227.4:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.567C>G
  hgvsp: ENST00000393949.1:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.594C>G
  hgvsp: ENST00000277982.5:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.567C>G
  hgvsp: ENST00000354106.3:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3933C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1373C>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.594C>G
  hgvsp: ENST00000371247.2:c.594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3933C>G
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala198Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-97174475-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174475
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174475
    reference: chr 10
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.586G>C
  hgvsp: ENSP00000360293.2:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.586G>C
  hgvsp: ENSP00000355136.3:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.586G>C
  hgvsp: ENSP00000277982.5:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-63G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3941G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.559G>C
  hgvsp: ENSP00000277984.4:p.Ala187Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3941G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3941G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1365G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.586G>C
  hgvsp: ENSP00000360271.3:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.586G>C
  hgvsp: ENSP00000360292.2:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+751G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.559G>C
  hgvsp: ENSP00000377521.1:p.Ala187Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.490G>C
  hgvsp: ENSP00000360295.2:p.Ala164Pro
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3941G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-63G>C
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3941G>C
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala196Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

10-97174479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174479
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174479
    reference: chr 10
allele count: 10
allele frequency: 8.243207596940122e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.582G>A
  hgvsp: ENST00000371246.2:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.582G>A
  hgvsp: ENST00000277982.5:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1361G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.555G>A
  hgvsp: ENST00000393949.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.555G>A
  hgvsp: ENST00000354106.3:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.486G>A
  hgvsp: ENST00000371249.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-67G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+747G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.582G>A
  hgvsp: ENST00000371247.2:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.582G>A
  hgvsp: ENST00000361941.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.582G>A
  hgvsp: ENST00000371227.4:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3945G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-67G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

10-97174480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174480
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174480
    reference: chr 10
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3946C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.554C>T
  hgvsp: ENSP00000377521.1:p.Ala185Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.581C>T
  hgvsp: ENSP00000277982.5:p.Ala194Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3946C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.581C>T
  hgvsp: ENSP00000360271.3:p.Ala194Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3946C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-68C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.554C>T
  hgvsp: ENSP00000277984.4:p.Ala185Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.581C>T
  hgvsp: ENSP00000360292.2:p.Ala194Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-68C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.485C>T
  hgvsp: ENSP00000360295.2:p.Ala162Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3946C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.581C>T
  hgvsp: ENSP00000360293.2:p.Ala194Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1360C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.581C>T
  hgvsp: ENSP00000355136.3:p.Ala194Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3946C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+746C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

10-97174496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174496
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174496
    reference: chr 10
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.469G>A
  hgvsp: ENSP00000360295.2:p.Val157Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3962G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.565G>A
  hgvsp: ENSP00000360292.2:p.Val189Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3962G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.565G>A
  hgvsp: ENSP00000360293.2:p.Val189Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3962G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.565G>A
  hgvsp: ENSP00000277982.5:p.Val189Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+730G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-84G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.565G>A
  hgvsp: ENSP00000355136.3:p.Val189Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.538G>A
  hgvsp: ENSP00000277984.4:p.Val180Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.565G>A
  hgvsp: ENSP00000360271.3:p.Val189Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.538G>A
  hgvsp: ENSP00000377521.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1344G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3962G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-84G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3962G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val189Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

10-97174497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174497
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174497
    reference: chr 10
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3963C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+729C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.564C>T
  hgvsp: ENST00000277982.5:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-85C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.564C>T
  hgvsp: ENST00000371227.4:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.564C>T
  hgvsp: ENST00000371246.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.537C>T
  hgvsp: ENST00000354106.3:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1343C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3963C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.564C>T
  hgvsp: ENST00000361941.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.537C>T
  hgvsp: ENST00000393949.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.468C>T
  hgvsp: ENST00000371249.2:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-85C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.564C>T
  hgvsp: ENST00000371247.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3963C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3963C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3963C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys188Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

10-97174505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174505
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174505
    reference: chr 10
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3971C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3971C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.529C>T
  hgvsp: ENSP00000377521.1:p.Leu177Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.556C>T
  hgvsp: ENSP00000360293.2:p.Leu186Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.556C>T
  hgvsp: ENSP00000277982.5:p.Leu186Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.433C>T
  hgvsp: ENSP00000474932.1:p.Leu145Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.460C>T
  hgvsp: ENSP00000360295.2:p.Leu154Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.556C>T
  hgvsp: ENSP00000360271.3:p.Leu186Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.556C>T
  hgvsp: ENSP00000355136.3:p.Leu186Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1335C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-93C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3971C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.556C>T
  hgvsp: ENSP00000360292.2:p.Leu186Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.529C>T
  hgvsp: ENSP00000277984.4:p.Leu177Phe
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+721C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3971C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-93C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3971C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu186Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

10-97174507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174507
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174507
    reference: chr 10
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.527C>T
  hgvsp: ENSP00000377521.1:p.Pro176Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3973C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3973C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1333C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.431C>T
  hgvsp: ENSP00000474932.1:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.554C>T
  hgvsp: ENSP00000277982.5:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.458C>T
  hgvsp: ENSP00000360295.2:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.554C>T
  hgvsp: ENSP00000360271.3:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.554C>T
  hgvsp: ENSP00000355136.3:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.554C>T
  hgvsp: ENSP00000360292.2:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-95C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.554C>T
  hgvsp: ENSP00000360293.2:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+719C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3973C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3973C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-95C>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.527C>T
  hgvsp: ENSP00000277984.4:p.Pro176Leu
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3973C>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro185Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

10-97174509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174509
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174509
    reference: chr 10
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.525G>A
  hgvsp: ENST00000354106.3:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.552G>A
  hgvsp: ENST00000371247.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.429G>A
  hgvsp: ENST00000492542.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.552G>A
  hgvsp: ENST00000371246.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.552G>A
  hgvsp: ENST00000371227.4:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3975G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1331G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.552G>A
  hgvsp: ENST00000361941.3:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3975G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3975G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.456G>A
  hgvsp: ENST00000371249.2:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-97G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3975G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+717G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.552G>A
  hgvsp: ENST00000277982.5:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3975G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.525G>A
  hgvsp: ENST00000393949.1:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-97G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly184Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

10-97174519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174519
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174519
    reference: chr 10
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.542C>A
  hgvsp: ENSP00000360292.2:p.Thr181Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.446C>A
  hgvsp: ENSP00000360295.2:p.Thr149Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.542C>A
  hgvsp: ENSP00000277982.5:p.Thr181Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-107C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3985C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.542C>A
  hgvsp: ENSP00000360271.3:p.Thr181Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.419C>A
  hgvsp: ENSP00000474932.1:p.Thr140Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+707C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1321C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.515C>A
  hgvsp: ENSP00000277984.4:p.Thr172Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.542C>A
  hgvsp: ENSP00000360293.2:p.Thr181Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.542C>A
  hgvsp: ENSP00000355136.3:p.Thr181Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3985C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.515C>A
  hgvsp: ENSP00000377521.1:p.Thr172Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3985C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-107C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3985C>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3985C>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr181Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-97174520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174520
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174520
    reference: chr 10
allele count: 8
allele frequency: 6.592501030078285e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.541A>G
  hgvsp: ENSP00000277982.5:p.Thr181Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3986A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.514A>G
  hgvsp: ENSP00000377521.1:p.Thr172Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-108A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-108A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.541A>G
  hgvsp: ENSP00000360271.3:p.Thr181Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.541A>G
  hgvsp: ENSP00000360293.2:p.Thr181Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+706A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.418A>G
  hgvsp: ENSP00000474932.1:p.Thr140Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3986A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3986A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.541A>G
  hgvsp: ENSP00000355136.3:p.Thr181Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.514A>G
  hgvsp: ENSP00000277984.4:p.Thr172Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.541A>G
  hgvsp: ENSP00000360292.2:p.Thr181Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3986A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1320A>G
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.445A>G
  hgvsp: ENSP00000360295.2:p.Thr149Ala
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3986A>G
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr181Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

10-97174532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174532
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174532
    reference: chr 10
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.502G>A
  hgvsp: ENSP00000377521.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.433G>A
  hgvsp: ENSP00000360295.2:p.Ala145Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.502G>A
  hgvsp: ENSP00000277984.4:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-3998G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.406G>A
  hgvsp: ENSP00000474932.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1308G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-3998G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.529G>A
  hgvsp: ENSP00000360292.2:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.529G>A
  hgvsp: ENSP00000277982.5:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-3998G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-120G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.529G>A
  hgvsp: ENSP00000355136.3:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.529G>A
  hgvsp: ENSP00000360271.3:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-3998G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+694G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-3998G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.529G>A
  hgvsp: ENSP00000360293.2:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-120G>A
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala177Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/10-97174537-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174537
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174537
    reference: chr 10
allele count: 5187
allele frequency: 4.277303163241745e-2
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-125G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-125G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-4003G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.524G>T
  hgvsp: ENSP00000355136.3:p.Gly175Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.524G>T
  hgvsp: ENSP00000360293.2:p.Gly175Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.428G>T
  hgvsp: ENSP00000360295.2:p.Gly143Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-4003G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.524G>T
  hgvsp: ENSP00000277982.5:p.Gly175Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.497G>T
  hgvsp: ENSP00000277984.4:p.Gly166Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-4003G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1303G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.524G>T
  hgvsp: ENSP00000360271.3:p.Gly175Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.524G>T
  hgvsp: ENSP00000360292.2:p.Gly175Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.497G>T
  hgvsp: ENSP00000377521.1:p.Gly166Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.401G>T
  hgvsp: ENSP00000474932.1:p.Gly134Val
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+689G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-4003G>T
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-4003G>T
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 13956
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
hgvs: p.Gly175Val
num of homozygotes: 171
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

10-97174541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 97174541
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 97174541
    reference: chr 10
allele count: 11
allele frequency: 9.072314594879915e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360295
  ensembl transcript: ENST00000371249
  gene symbol: SORBS1
  hgvsc: ENST00000371249.2:c.424G>A
  hgvsp: ENSP00000360295.2:p.Glu142Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360293
  ensembl transcript: ENST00000371247
  gene symbol: SORBS1
  hgvsc: ENST00000371247.2:c.520G>A
  hgvsp: ENSP00000360293.2:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000475901
  ensembl transcript: ENST00000607232
  gene symbol: SORBS1
  hgvsc: ENST00000607232.1:c.346-4007G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360283
  ensembl transcript: ENST00000371239
  gene symbol: SORBS1
  hgvsc: ENST00000371239.1:c.346-4007G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000343998
  ensembl transcript: ENST00000353505
  gene symbol: SORBS1
  hgvsc: ENST00000353505.5:c.442-129G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000095637
  ensembl transcript: ENST00000474353
  gene symbol: SORBS1
  hgvsc: ENST00000474353.2:n.1299G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360292
  ensembl transcript: ENST00000371246
  gene symbol: SORBS1
  hgvsc: ENST00000371246.2:c.520G>A
  hgvsp: ENSP00000360292.2:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000355136
  ensembl transcript: ENST00000361941
  gene symbol: SORBS1
  hgvsc: ENST00000361941.3:c.520G>A
  hgvsp: ENSP00000355136.3:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277984
  ensembl transcript: ENST00000354106
  gene symbol: SORBS1
  hgvsc: ENST00000354106.3:c.493G>A
  hgvsp: ENSP00000277984.4:p.Glu165Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000473813
  ensembl transcript: ENST00000486141
  gene symbol: SORBS1
  hgvsc: ENST00000486141.2:c.227+685G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277985
  ensembl transcript: ENST00000347291
  gene symbol: SORBS1
  hgvsc: ENST00000347291.4:c.415-4007G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000474932
  ensembl transcript: ENST00000492542
  gene symbol: SORBS1
  hgvsc: ENST00000492542.1:c.397G>A
  hgvsp: ENSP00000474932.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360271
  ensembl transcript: ENST00000371227
  gene symbol: SORBS1
  hgvsc: ENST00000371227.4:c.520G>A
  hgvsp: ENSP00000360271.3:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360291
  ensembl transcript: ENST00000371245
  gene symbol: SORBS1
  hgvsc: ENST00000371245.3:c.442-129G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000377521
  ensembl transcript: ENST00000393949
  gene symbol: SORBS1
  hgvsc: ENST00000393949.1:c.493G>A
  hgvsp: ENSP00000377521.1:p.Glu165Lys
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000302556
  ensembl transcript: ENST00000306402
  gene symbol: SORBS1
  hgvsc: ENST00000306402.6:c.442-4007G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000360285
  ensembl transcript: ENST00000371241
  gene symbol: SORBS1
  hgvsc: ENST00000371241.1:c.319-4007G>A
  variant of: http://identifiers.org/hgnc/14565
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095637
  ensembl protein: ENSP00000277982
  ensembl transcript: ENST00000277982
  gene symbol: SORBS1
  hgvsc: ENST00000277982.5:c.520G>A
  hgvsp: ENSP00000277982.5:p.Glu174Lys
  variant of: http://identifiers.org/hgnc/14565
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Glu174Lys
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 9324
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4001
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 956
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16685
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2762
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10996
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1676
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2745
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5869
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9578
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.094091903719913e-4
allele num: 9140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.798054e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

VQSLOD
type: SiteQuality
SIO_000300: -1.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.417e0

FS
type: SiteQuality
SIO_000300: 1.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.385e0

GenotypeDepth
all individuals: 960
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4009
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3543
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 163
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10982
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 301
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1674
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9582
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1670
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.359548211671199e-3
allele num: 9562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.192949966474025e-5
allele num: 62638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 6.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 1.799019e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

GenotypeDepth
all individuals: 9305
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10975
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2528
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 299
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16708
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3627
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 958
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1674
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9571
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2498
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21448
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8510
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European (Non-Finnish)
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South Asian
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Latino
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African
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QD
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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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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62696
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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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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Other
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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FS
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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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 (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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FS
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QD
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MQ
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GenotypeDepth
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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DP
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MQRankSum
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FS
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VQSLOD
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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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MQRankSum
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DP
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GenotypeQuality
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bin: 5.25e1
variant carriers: 10

GenotypeQuality
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variant carriers: 10

GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 3462
bin: 7.25e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1140
allele frequency: 1.814882032667877e-2
allele num: 62814
num of homozygotes: 11

Other
type: Population
allele count: 10
allele frequency: 1.2853470437018e-2
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

African
type: Population
allele count: 54
allele frequency: 5.606312292358804e-3
allele num: 9632
num of homozygotes: 0

Latino
type: Population
allele count: 72
allele frequency: 6.295907660020987e-3
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 174
allele frequency: 1.823134953897737e-2
allele num: 9544
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 63
allele frequency: 9.562841530054645e-3
allele num: 6588
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.791935e6

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10224
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8875
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1275
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 2687
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3936
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variant carriers: 0

GenotypeDepth
all individuals: 62
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variant carriers: 0

GenotypeDepth
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2979
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variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 717
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variant carriers: 0

GenotypeQuality
all individuals: 3477
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variant carriers: 0

GenotypeQuality
all individuals: 1983
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9096
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.178841630109988e-5
allele num: 62916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

DP
type: SiteQuality
SIO_000300: 1.753237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeDepth
all individuals: 3936
bin: 4.25e1
variant carriers: 33

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 8875
bin: 2.25e1
variant carriers: 7

GenotypeDepth
all individuals: 1714
bin: 1.75e1
variant carriers: 10

GenotypeDepth
all individuals: 876
bin: 5.75e1
variant carriers: 15

GenotypeDepth
all individuals: 15968
bin: 2.75e1
variant carriers: 18

GenotypeDepth
all individuals: 10224
bin: 3.25e1
variant carriers: 19

GenotypeDepth
all individuals: 4483
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 62
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variant carriers: 4

GenotypeDepth
all individuals: 25
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variant carriers: 1

GenotypeDepth
all individuals: 77
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variant carriers: 3

GenotypeDepth
all individuals: 123
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variant carriers: 5

GenotypeDepth
all individuals: 227
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variant carriers: 10

GenotypeDepth
all individuals: 2687
bin: 4.75e1
variant carriers: 26

GenotypeDepth
all individuals: 1594
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variant carriers: 15

GenotypeQuality
all individuals: 542
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9096
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variant carriers: 223

GenotypeQuality
all individuals: 2979
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1293
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7301
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variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19208
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 176
allele frequency: 2.797380634496789e-3
allele num: 62916
num of homozygotes: 1

Latino
type: Population
allele count: 21
allele frequency: 1.837270341207349e-3
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.128953771289538e-3
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.41025641025641e-3
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.281573498964803e-4
allele num: 9660
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.753237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e0

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.007e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeDepth
all individuals: 1046
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1588
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5630
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9150
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variant carriers: 1

GenotypeDepth
all individuals: 2681
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2363
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variant carriers: 0

GenotypeDepth
all individuals: 218
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variant carriers: 0

GenotypeDepth
all individuals: 118
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variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
all individuals: 15373
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variant carriers: 0

GenotypeDepth
all individuals: 3914
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variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 24
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variant carriers: 0

GenotypeDepth
all individuals: 2666
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variant carriers: 0

GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 1646
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variant carriers: 0

GenotypeQuality
all individuals: 967
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variant carriers: 0

GenotypeQuality
all individuals: 5105
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variant carriers: 0

GenotypeQuality
all individuals: 719
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variant carriers: 0

GenotypeQuality
all individuals: 2968
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variant carriers: 0

GenotypeQuality
all individuals: 966
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variant carriers: 0

GenotypeQuality
all individuals: 1081
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variant carriers: 0

GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 18272
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variant carriers: 0

GenotypeQuality
all individuals: 7126
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variant carriers: 0

GenotypeQuality
all individuals: 1151
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GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
all individuals: 3805
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variant carriers: 0

GenotypeQuality
all individuals: 8904
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variant carriers: 1

GenotypeQuality
all individuals: 3415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589016716455857e-5
allele num: 62932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.739496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 75
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variant carriers: 0

GenotypeDepth
all individuals: 218
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 2661
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variant carriers: 1

GenotypeDepth
all individuals: 119
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
all individuals: 7095
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5254
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8901
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variant carriers: 4

GenotypeQuality
all individuals: 1017
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variant carriers: 0

GenotypeQuality
all individuals: 3410
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variant carriers: 0

GenotypeQuality
all individuals: 1025
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 1217
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GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 1984
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GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 1643
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 1033
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variant carriers: 0

GenotypeQuality
all individuals: 3788
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variant carriers: 0

GenotypeQuality
all individuals: 2974
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variant carriers: 0

GenotypeQuality
all individuals: 18081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.763114441762987e-5
allele num: 62984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.275510204081633e-3
allele num: 784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.736439e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1976
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variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8897
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.731812e6

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
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SIO_000300: 5.41e-1

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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South Asian
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Latino
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Other
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQ
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DP
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 75

GenotypeQuality
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variant carriers: 8848

Latino
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allele count: 581
allele frequency: 5.100965759438104e-2
allele num: 11390
num of homozygotes: 11

Other
type: Population
allele count: 60
allele frequency: 7.194244604316546e-2
allele num: 834
num of homozygotes: 2

European (Finnish)
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allele count: 85
allele frequency: 1.299296851115867e-2
allele num: 6542
num of homozygotes: 0

South Asian
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allele count: 2135
allele frequency: 1.727625829422237e-1
allele num: 12358
num of homozygotes: 163

African
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allele count: 3134
allele frequency: 3.12213588364216e-1
allele num: 10038
num of homozygotes: 467

European (Non-Finnish)
type: Population
allele count: 3071
allele frequency: 4.811971168912567e-2
allele num: 63820
num of homozygotes: 82

East Asian
type: Population
allele count: 1064
allele frequency: 1.272727272727273e-1
allele num: 8360
num of homozygotes: 54

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
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SIO_000300: 5.0e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.667e1

DP
type: SiteQuality
SIO_000300: 1.7977e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3734
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.930486593843098e-5
allele num: 10070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557875058420315e-5
allele num: 64190
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13088
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

BaseQRankSum
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SIO_000300: -3.074e0

ClippingRankSum
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SIO_000300: 2.37e0

InbreedingCoeff
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SIO_000300: 3.0e-3

FS
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SIO_000300: 3.239e0

DP
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SIO_000300: 1.780397e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 551
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
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SIO_000300: -1.354e0

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.78361e6

FS
type: SiteQuality
SIO_000300: 9.445e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -1.27e0

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 714
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55448468832582e-5
allele num: 64330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.134e1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2073
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

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

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

East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65728
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African
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South Asian
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Other
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QD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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Other
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European (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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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

Other
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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FS
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 66556
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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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Other
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European (Finnish)
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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Latino
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European (Non-Finnish)
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Other
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African
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South Asian
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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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 (Non-Finnish)
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African
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South Asian
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East Asian
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European (Finnish)
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DP
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MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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Latino
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East Asian
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South Asian
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European (Finnish)
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DP
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MQ
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VQSLOD
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FS
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

DP
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SIO_000300: 1.922327e6

BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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SIO_000300: 5.928e1

VQSLOD
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MQRankSum
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SIO_000300: 2.69e-1

QD
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SIO_000300: 1.03e1

ClippingRankSum
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SIO_000300: 1.15e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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VQSLOD
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SIO_000300: 3.1e0

ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: 6.3e-2

MQ
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SIO_000300: 5.931e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -4.02e-1

DP
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SIO_000300: 1.92371e6

QD
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SIO_000300: 1.159e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

East Asian
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allele frequency: 2.079963022879593e-3
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

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

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

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.927027e6

FS
type: SiteQuality
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VQSLOD
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SIO_000300: 7.64e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

VQSLOD
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SIO_000300: -8.133e-1

FS
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SIO_000300: 2.228e0

MQ
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.06e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 1.17e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049349403369911e-4
allele num: 66708
num of homozygotes: 0

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

Other
type: Population
allele count: 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: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
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SIO_000300: -1.83e-1

DP
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SIO_000300: 1.92777e6

ReadPosRankSum
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SIO_000300: 2.7e-1

BaseQRankSum
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VQSLOD
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SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -1.9e-1

QD
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SIO_000300: 1.382e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

African
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.927335e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 384

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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variant carriers: 5003

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.779860901118839e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 31
allele frequency: 3.41409691629956e-2
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South Asian
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allele count: 1625
allele frequency: 9.854457246816252e-2
allele num: 16490
num of homozygotes: 90

East Asian
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allele count: 869
allele frequency: 1.006952491309386e-1
allele num: 8630
num of homozygotes: 33

European (Non-Finnish)
type: Population
allele count: 1743
allele frequency: 2.614604584183367e-2
allele num: 66664
num of homozygotes: 26

Latino
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allele count: 325
allele frequency: 2.810446212383258e-2
allele num: 11564
num of homozygotes: 3

African
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allele count: 569
allele frequency: 5.47220619349875e-2
allele num: 10398
num of homozygotes: 18

DP
type: SiteQuality
SIO_000300: 2.141936e6

ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 2.57e-2

ReadPosRankSum
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MQRankSum
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MQ
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SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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