2-47702217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702217
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1813G>T
  hgvsp: ENSP00000233146.2:p.Val605Phe
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1615G>T
  hgvsp: ENSP00000442697.1:p.Val539Phe
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1813G>T
  hgvsp: ENSP00000384199.1:p.Val605Phe
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val605Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

2-47702217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702217
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1813G>A
  hgvsp: ENSP00000233146.2:p.Val605Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1615G>A
  hgvsp: ENSP00000442697.1:p.Val539Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1813G>A
  hgvsp: ENSP00000384199.1:p.Val605Ile
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val605Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

2-47702221-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702221
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702221
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1817T>A
  hgvsp: ENSP00000233146.2:p.Val606Asp
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1619T>A
  hgvsp: ENSP00000442697.1:p.Val540Asp
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1817T>A
  hgvsp: ENSP00000384199.1:p.Val606Asp
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val606Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47702223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702223
    reference: chr 2
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1819A>G
  hgvsp: ENSP00000233146.2:p.Ser607Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1819A>G
  hgvsp: ENSP00000384199.1:p.Ser607Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1621A>G
  hgvsp: ENSP00000442697.1:p.Ser541Gly
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser607Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-47702229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702229
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702229
    reference: chr 2
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1825G>T
  hgvsp: ENSP00000233146.2:p.Ala609Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1627G>T
  hgvsp: ENSP00000442697.1:p.Ala543Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1825G>T
  hgvsp: ENSP00000384199.1:p.Ala609Ser
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala609Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-47702234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702234
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702234
    reference: chr 2
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1830C>T
  hgvsp: ENST00000233146.2:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1632C>T
  hgvsp: ENST00000543555.1:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1830C>T
  hgvsp: ENST00000406134.1:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His610His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-47702235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702235
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1831G>A
  hgvsp: ENSP00000233146.2:p.Val611Met
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1831G>A
  hgvsp: ENSP00000384199.1:p.Val611Met
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1633G>A
  hgvsp: ENSP00000442697.1:p.Val545Met
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val611Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-47702241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702241
    reference: chr 2
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1837A>C
  hgvsp: ENSP00000384199.1:p.Asn613His
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1837A>C
  hgvsp: ENSP00000233146.2:p.Asn613His
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1639A>C
  hgvsp: ENSP00000442697.1:p.Asn547His
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn613His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-47702248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702248
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1844C>T
  hgvsp: ENSP00000384199.1:p.Ala615Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1646C>T
  hgvsp: ENSP00000442697.1:p.Ala549Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1844C>T
  hgvsp: ENSP00000233146.2:p.Ala615Val
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala615Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-47702251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702251
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702251
    reference: chr 2
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1847C>G
  hgvsp: ENSP00000233146.2:p.Pro616Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1649C>G
  hgvsp: ENSP00000442697.1:p.Pro550Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1847C>G
  hgvsp: ENSP00000384199.1:p.Pro616Arg
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45444
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro616Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-47702260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702260
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1856A>G
  hgvsp: ENSP00000384199.1:p.Tyr619Cys
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1856A>G
  hgvsp: ENSP00000233146.2:p.Tyr619Cys
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1658A>G
  hgvsp: ENSP00000442697.1:p.Tyr553Cys
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr619Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-47702265-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702265
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1663C>G
  hgvsp: ENSP00000442697.1:p.Arg555Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1861C>G
  hgvsp: ENSP00000384199.1:p.Arg621Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1861C>G
  hgvsp: ENSP00000233146.2:p.Arg621Gly
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg621Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-47702266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702266
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1664G>A
  hgvsp: ENSP00000442697.1:p.Arg555Gln
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1862G>A
  hgvsp: ENSP00000233146.2:p.Arg621Gln
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1862G>A
  hgvsp: ENSP00000384199.1:p.Arg621Gln
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg621Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-47702270-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702270
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1668A>C
  hgvsp: ENST00000543555.1:c.1668A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1866A>C
  hgvsp: ENST00000406134.1:c.1866A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1866A>C
  hgvsp: ENST00000233146.2:c.1866A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro622Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-47702272-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702272
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1868C>G
  hgvsp: ENSP00000233146.2:p.Ala623Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1868C>G
  hgvsp: ENSP00000384199.1:p.Ala623Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1670C>G
  hgvsp: ENSP00000442697.1:p.Ala557Gly
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala623Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47702286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702286
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702286
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1684G>A
  hgvsp: ENSP00000442697.1:p.Gly562Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1882G>A
  hgvsp: ENSP00000384199.1:p.Gly628Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1882G>A
  hgvsp: ENSP00000233146.2:p.Gly628Arg
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 45449
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly628Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-47702290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702290
    reference: chr 2
allele count: 157
allele frequency: 1.293138950663043e-3
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1886A>G
  hgvsp: ENSP00000233146.2:p.Gln629Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1688A>G
  hgvsp: ENSP00000442697.1:p.Gln563Arg
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1886A>G
  hgvsp: ENSP00000384199.1:p.Gln629Arg
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 9.75e1
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln629Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

2-47702294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702294
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1692A>G
  hgvsp: ENST00000543555.1:c.1692A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1890A>G
  hgvsp: ENST00000233146.2:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1890A>G
  hgvsp: ENST00000406134.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly630Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-47702297-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702297
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1893A>T
  hgvsp: ENSP00000384199.1:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1893A>T
  hgvsp: ENSP00000233146.2:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1695A>T
  hgvsp: ENSP00000442697.1:p.Arg565Ser
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg631Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-47702301-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702301
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1897A>G
  hgvsp: ENSP00000384199.1:p.Ile633Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1897A>G
  hgvsp: ENSP00000233146.2:p.Ile633Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1699A>G
  hgvsp: ENSP00000442697.1:p.Ile567Val
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile633Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-47702310-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702310
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1708G>C
  hgvsp: ENSP00000442697.1:p.Ala570Pro
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1906G>C
  hgvsp: ENSP00000384199.1:p.Ala636Pro
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1906G>C
  hgvsp: ENSP00000233146.2:p.Ala636Pro
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala636Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-47702311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702311
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1907C>T
  hgvsp: ENSP00000233146.2:p.Ala636Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1907C>T
  hgvsp: ENSP00000384199.1:p.Ala636Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1709C>T
  hgvsp: ENSP00000442697.1:p.Ala570Val
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala636Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-47702322-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702322
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1918G>T
  hgvsp: ENSP00000384199.1:p.Ala640Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1918G>T
  hgvsp: ENSP00000233146.2:p.Ala640Ser
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1720G>T
  hgvsp: ENSP00000442697.1:p.Ala574Ser
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala640Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-47702328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702328
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1924G>A
  hgvsp: ENSP00000233146.2:p.Val642Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1924G>A
  hgvsp: ENSP00000384199.1:p.Val642Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1726G>A
  hgvsp: ENSP00000442697.1:p.Val576Ile
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45411
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6782
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val642Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-47702337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702337
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1735C>G
  hgvsp: ENSP00000442697.1:p.Gln579Glu
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1933C>G
  hgvsp: ENSP00000233146.2:p.Gln645Glu
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1933C>G
  hgvsp: ENSP00000384199.1:p.Gln645Glu
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln645Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-47702341-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702341
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1937A>C
  hgvsp: ENSP00000233146.2:p.Asp646Ala
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1937A>C
  hgvsp: ENSP00000384199.1:p.Asp646Ala
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1739A>C
  hgvsp: ENSP00000442697.1:p.Asp580Ala
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 6786
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genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp646Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-47702342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702342
    reference: chr 2
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1938T>C
  hgvsp: ENST00000233146.2:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1938T>C
  hgvsp: ENST00000406134.1:c.1938T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1740T>C
  hgvsp: ENST00000543555.1:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6785
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp646Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-47702347-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702347
    reference: chr 2
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1943T>A
  hgvsp: ENSP00000384199.1:p.Ile648Asn
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1745T>A
  hgvsp: ENSP00000442697.1:p.Ile582Asn
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1943T>A
  hgvsp: ENSP00000233146.2:p.Ile648Asn
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
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genotype quality: GenotypeQuality
  all individuals: 1329
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genotype quality: GenotypeQuality
  all individuals: 590
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile648Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-47702347-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702347
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1943T>C
  hgvsp: ENSP00000384199.1:p.Ile648Thr
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1943T>C
  hgvsp: ENSP00000233146.2:p.Ile648Thr
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1745T>C
  hgvsp: ENSP00000442697.1:p.Ile582Thr
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile648Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-47702366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702366
    reference: chr 2
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1962C>T
  hgvsp: ENST00000233146.2:c.1962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1962C>T
  hgvsp: ENST00000406134.1:c.1962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1764C>T
  hgvsp: ENST00000543555.1:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45258
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp654Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-47702367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702367
    reference: chr 2
allele count: 17
allele frequency: 1.401507032267638e-4
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1963G>A
  hgvsp: ENSP00000384199.1:p.Val655Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1765G>A
  hgvsp: ENSP00000442697.1:p.Val589Ile
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1963G>A
  hgvsp: ENSP00000233146.2:p.Val655Ile
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45228
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val655Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-47702369-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702369
    reference: chr 2
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1965A>C
  hgvsp: ENST00000233146.2:c.1965A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1767A>C
  hgvsp: ENST00000543555.1:c.1767A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1965A>C
  hgvsp: ENST00000406134.1:c.1965A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6784
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val655Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-47702371-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702371
    reference: chr 2
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1769A>G
  hgvsp: ENSP00000442697.1:p.Tyr590Cys
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1967A>G
  hgvsp: ENSP00000233146.2:p.Tyr656Cys
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1967A>G
  hgvsp: ENSP00000384199.1:p.Tyr656Cys
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Tyr656Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-47702377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702377
    reference: chr 2
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1775A>G
  hgvsp: ENSP00000442697.1:p.Glu592Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1973A>G
  hgvsp: ENSP00000233146.2:p.Glu658Gly
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1973A>G
  hgvsp: ENSP00000384199.1:p.Glu658Gly
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu658Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47702390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702390
    reference: chr 2
allele count: 2
allele frequency: 1.651827747402501e-5
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1986G>A
  hgvsp: ENST00000233146.2:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1986G>A
  hgvsp: ENST00000406134.1:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1788G>A
  hgvsp: ENST00000543555.1:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln662Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

2-47702391-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702391
    reference: chr 2
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1987A>G
  hgvsp: ENSP00000384199.1:p.Met663Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1789A>G
  hgvsp: ENSP00000442697.1:p.Met597Val
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1987A>G
  hgvsp: ENSP00000233146.2:p.Met663Val
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 416
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met663Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-47702391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702391
    reference: chr 2
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1987A>T
  hgvsp: ENSP00000233146.2:p.Met663Leu
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1789A>T
  hgvsp: ENSP00000442697.1:p.Met597Leu
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1987A>T
  hgvsp: ENSP00000384199.1:p.Met663Leu
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met663Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-47702396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702396
    reference: chr 2
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.1992C>T
  hgvsp: ENST00000233146.2:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1794C>T
  hgvsp: ENST00000543555.1:c.1794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.1992C>T
  hgvsp: ENST00000406134.1:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe664Phe
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

2-47702411-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702411
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702412
    reference: chr 2
allele count: 4
allele frequency: 3.309778741291145e-5
allele num: 120854
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+8dupA
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+8dupA
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+8dupA
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2005+8dupA
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-47702421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702421
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+12G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+12G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+12G>C
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
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genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43477
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genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47702422-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702422
    reference: chr 2
allele count: 2
allele frequency: 1.656918463042434e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+13G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+13G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+13G>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43333
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-47702428-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702428
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702428
    reference: chr 2
allele count: 3
allele frequency: 2.498126405196103e-5
allele num: 120090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+19G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+19G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+19G>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-47702431-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702431
    reference: chr 2
allele count: 11
allele frequency: 9.479163076074593e-5
allele num: 116044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+22C>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+22C>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+22C>G
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-47702431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702431
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 116044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+22C>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+22C>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+22C>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

2-47702435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702435
    reference: chr 2
allele count: 2
allele frequency: 1.734304543877905e-5
allele num: 115320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+26G>A
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+26G>A
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+26G>A
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-47702435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702435
    reference: chr 2
allele count: 35
allele frequency: 3.035032951786334e-4
allele num: 115320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+26G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+26G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+26G>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26678
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32886
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-47702436-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702436
    reference: chr 2
allele count: 3
allele frequency: 2.524275112330242e-5
allele num: 118846
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+27T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+27T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+27T>G
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47702440-GGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702438
    reference: chr 2
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+32_2005+33delGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+32_1807+33delGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+32_2005+33delGT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: GGT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47702441-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702441
    reference: chr 2
allele count: 1
allele frequency: 8.642594161063386e-6
allele num: 115706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+32G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+32G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+32G>C
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-47702441-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702441
    reference: chr 2
allele count: 1
allele frequency: 8.642594161063386e-6
allele num: 115706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+32G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+32G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+32G>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

2-47702442-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702442
    reference: chr 2
allele count: 37
allele frequency: 3.311199012009808e-4
allele num: 111742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+33T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+33T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+33T>G
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18610
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11429
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9614
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 8.25e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-47702444-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
allele count: 1
allele frequency: 8.776240960471811e-6
allele num: 113944
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+36dupC
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+36dupC
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+36dupC
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-47702445-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
allele count: 2
allele frequency: 1.902696120402611e-5
allele num: 105114
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+36_1807+37insT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+36_2005+37insT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+36_2005+37insT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
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genotype quality: GenotypeQuality
  all individuals: 1354
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
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genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
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genotype quality: GenotypeQuality
  all individuals: 672
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genotype quality: GenotypeQuality
  all individuals: 1436
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

2-47702445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
allele count: 1
allele frequency: 9.513480602013053e-6
allele num: 105114
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8396
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 820
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10548
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14932
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-47702445-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702444
    reference: chr 2
allele count: 7
allele frequency: 6.659436421409136e-5
allele num: 105114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+37delG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+37delG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+37delG
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: CG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-47702445-CGTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702440
    reference: chr 2
allele count: 688
allele frequency: 6.54527465418498e-3
allele num: 105114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42_1807+46delGTTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42_2005+46delGTTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42_2005+46delGTTTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.5e0
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 1.75e1
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 4.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 5.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 2.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 3.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 9.75e1
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 19
num of homozygotes: 1
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CGTTTT
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-47702446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
allele count: 6
allele frequency: 7.942811755361398e-5
allele num: 75540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+37G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+37G>C
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+37G>C
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-47702446-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702447
    reference: chr 2
allele count: 794
allele frequency: 1.051098755626158e-2
allele num: 75540
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+41dupT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+41dupT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+41dupT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 20
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-47702446-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702448
    reference: chr 2
allele count: 124
allele frequency: 1.641514429441355e-3
allele num: 75540
alternate allele: GTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+40_2005+41dupTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+40_2005+41dupTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+40_1807+41dupTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-47702446-G-GTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702449
    reference: chr 2
allele count: 22
allele frequency: 2.912364310299179e-4
allele num: 75540
alternate allele: GTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+39_1807+41dupTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+39_2005+41dupTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+39_2005+41dupTTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-47703543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47703543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47703543
    reference: chr 2
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2043A>G
  hgvsp: ENST00000233146.2:c.2043A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1845A>G
  hgvsp: ENST00000543555.1:c.1845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2043A>G
  hgvsp: ENST00000406134.1:c.2043A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln681Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-47702446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
allele count: 3
allele frequency: 3.971405877680699e-5
allele num: 75540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+37G>A
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+37G>A
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+37G>A
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

2-47702446-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702446
    reference: chr 2
allele count: 18
allele frequency: 2.382843526608419e-4
allele num: 75540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+37G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+37G>T
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+37G>T
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-47702447-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702443
    reference: chr 2
allele count: 21
allele frequency: 2.713739274268583e-4
allele num: 77384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42_1807+45delGTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42_2005+45delGTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42_2005+45delGTTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: TTTTG
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-47702448-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702445
    reference: chr 2
allele count: 169
allele frequency: 1.894703798376609e-3
allele num: 89196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42_1807+44delGTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42_2005+44delGTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42_2005+44delGTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 1.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 2.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 4.25e1
  variant carriers: 12
num of homozygotes: 1
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: TTTG
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

2-47702449-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702447
    reference: chr 2
allele count: 553
allele frequency: 6.28023712721739e-3
allele num: 88054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42_2005+43delGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42_2005+43delGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42_1807+43delGT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 2.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 3.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 2.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 2.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 20
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: TTG
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-47702450-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
allele count: 2
allele frequency: 2.798690212980325e-5
allele num: 71462
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42dupG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42dupG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42dupG
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-47702450-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702449
    reference: chr 2
allele count: 1795
allele frequency: 2.511824466149842e-2
allele num: 71462
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+42delG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+42delG
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+42delG
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 2.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 1.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 4.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 6257
  bin: 2.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 1.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 3.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 3.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 2.5e0
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 6.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 811
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 61
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-47702451-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702452
    reference: chr 2
allele count: 1177
allele frequency: 4.133595560862541e-2
allele num: 28474
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+61dupT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+61dupT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+61dupT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 993
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 942
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 263
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 258
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 223
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 275
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 231
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 5
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-47702451-G-GTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702454
    reference: chr 2
allele count: 70
allele frequency: 2.458383086324366e-3
allele num: 28474
alternate allele: GTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+59_2005+61dupTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+59_1807+61dupTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+59_2005+61dupTTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 636
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 19
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-47702451-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702449
    reference: chr 2
allele count: 696
allele frequency: 2.444335182973941e-2
allele num: 28474
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 50
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 77
  allele frequency: 2.251461988304094e-2
  allele num: 3420
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 82
  allele frequency: 3.019145802650957e-2
  allele num: 2716
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 46
  allele frequency: 2.601809954751131e-2
  allele num: 1768
  num of homozygotes: 0
population: African
  type: Population
  allele count: 79
  allele frequency: 2.133981631550513e-2
  allele num: 3702
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GTT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-47702451-G-GTTTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702456
    reference: chr 2
allele count: 1357
allele frequency: 4.765751211631664e-2
allele num: 28474
alternate allele: GTTTTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+57_2005+61dupTTTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+57_1807+61dupTTTTT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+57_2005+61dupTTTTT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 854
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 514
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 493
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 50
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47702451-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
allele count: 5843
allele frequency: 2.052047481913324e-1
allele num: 28474
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 722
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 584
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 1119
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 866
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 1500
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 1494
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 308
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 448
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 2516
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 223
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 299
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 167
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 267
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 347
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 334
num of homozygotes: 14
population: Latino
  type: Population
  allele count: 797
  allele frequency: 2.330409356725146e-1
  allele num: 3420
  num of homozygotes: 1
population: Other
  type: Population
  allele count: 45
  allele frequency: 1.890756302521008e-1
  allele num: 238
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 356
  allele frequency: 2.013574660633484e-1
  allele num: 1768
  num of homozygotes: 1
population: African
  type: Population
  allele count: 481
  allele frequency: 1.299297676931389e-1
  allele num: 3702
  num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-47702451-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702450
    reference: chr 2
allele count: 2421
allele frequency: 8.5024935028447e-2
allele num: 28474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+61delT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+61delT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+61delT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 941
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 7.5e0
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 1.75e1
  variant carriers: 877
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.25e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 190
genotype quality: GenotypeQuality
  all individuals: 31531
  bin: 2.5e0
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 166
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 363
num of homozygotes: 2
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

2-47702453-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702453
    reference: chr 2
allele count: 2
allele frequency: 2.843170703969066e-5
allele num: 70344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+44T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+44T>G
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+44T>G
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10768
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47702454-T-TTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47702454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47702456
    reference: chr 2
allele count: 1
allele frequency: 1.070090957731407e-5
allele num: 93450
alternate allele: TTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000384199
  ensembl transcript: ENST00000406134
  gene symbol: MSH2
  hgvsc: ENST00000406134.1:c.2005+46_2005+47insGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000233146
  ensembl transcript: ENST00000233146
  gene symbol: MSH2
  hgvsc: ENST00000233146.2:c.2005+46_2005+47insGT
  variant of: http://identifiers.org/hgnc/7325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000095002
  ensembl protein: ENSP00000442697
  ensembl transcript: ENST00000543555
  gene symbol: MSH2
  hgvsc: ENST00000543555.1:c.1807+46_1807+47insGT
  variant of: http://identifiers.org/hgnc/7325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.495e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.664856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

FS
type: SiteQuality
SIO_000300: 5.882e0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.495e0

FS
type: SiteQuality
SIO_000300: 5.882e0

DP
type: SiteQuality
SIO_000300: 1.664856e6

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 1325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.665027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

GenotypeQuality
all individuals: 1325
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.861e0

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 1.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.665076e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

GenotypeQuality
all individuals: 1683
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.226e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 1.684e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.665484e6

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.665721e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.238e0

FS
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.665544e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 4.017e0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.666006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.696e0

DP
type: SiteQuality
SIO_000300: 1.665692e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.057e0

QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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Other
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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
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num of homozygotes: 0

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

FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 2

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

East Asian
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allele frequency: 1.744857869193437e-2
allele num: 8654
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 1.816860465116279e-4
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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African
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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VQSLOD
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QD
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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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Latino
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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FS
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VQSLOD
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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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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 2

African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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allele num: 8654
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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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DP
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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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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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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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Other
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele num: 11578
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Other
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European (Finnish)
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African
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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South Asian
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Latino
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allele num: 11578
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Other
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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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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QD
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.887e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 7.49265719594797e-5
allele num: 66732
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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MQRankSum
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DP
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FS
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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African
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Other
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 2

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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South Asian
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Other
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African
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allele frequency: 0.0e0
allele num: 10350
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
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European (Non-Finnish)
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European (Finnish)
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allele num: 6614
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East Asian
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allele frequency: 1.15606936416185e-4
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Other
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South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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FS
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DP
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66686
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 1.15606936416185e-4
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Latino
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South Asian
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ReadPosRankSum
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FS
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DP
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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Other
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 2.999310158663508e-5
allele num: 66682
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

Other
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.663441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

South Asian
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allele 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
allele num: 10244
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.663441e6

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
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allele num: 11558
num of homozygotes: 0

East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
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African
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allele frequency: 0.0e0
allele num: 10222
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.661495e6

FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 4

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1.21197430614471e-4
allele num: 16502
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East Asian
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allele frequency: 1.161710037174721e-4
allele num: 8608
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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 5.029e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.65611e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10156
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
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South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.654795e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.983e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66404
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European (Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.655804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.001e1

MQ
type: SiteQuality
SIO_000300: 5.839e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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
allele num: 10040
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16474
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Latino
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allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.65e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.061e0

VQSLOD
type: SiteQuality
SIO_000300: -2.816e0

DP
type: SiteQuality
SIO_000300: 1.659499e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.212709192335678e-4
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.796622349982034e-4
allele num: 11132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.273722513253239e-5
allele num: 63758
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African
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allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
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European (Finnish)
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allele count: 2
allele frequency: 3.256268316509281e-4
allele num: 6142
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
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FS
type: SiteQuality
SIO_000300: 1.3129e1

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

DP
type: SiteQuality
SIO_000300: 1.812408e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16058
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
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Other
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allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63758
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3129e1

DP
type: SiteQuality
SIO_000300: 1.812408e6

MQ
type: SiteQuality
SIO_000300: 5.9e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63422
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.215657670799903e-4
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South Asian
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allele frequency: 6.291682395872656e-5
allele num: 15894
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MQ
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 2

Latino
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allele frequency: 6.284790806248878e-4
allele num: 11138
num of homozygotes: 0

South Asian
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allele frequency: 1.258336479174531e-4
allele num: 15894
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European (Non-Finnish)
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allele count: 18
allele frequency: 2.838131878527955e-4
allele num: 63422
num of homozygotes: 0

European (Finnish)
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allele frequency: 8.210180623973727e-4
allele num: 6090
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East Asian
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Other
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African
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allele frequency: 1.03327133705311e-4
allele num: 9678
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.724480893386844e-5
allele num: 11462
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.061286965040103e-5
allele num: 65332
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Other
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11468
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European (Non-Finnish)
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allele frequency: 1.541592156379108e-5
allele num: 64868
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European (Finnish)
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African
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East Asian
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Other
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Latino
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African
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Other
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European (Non-Finnish)
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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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African
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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DP
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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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Other
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European (Non-Finnish)
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allele frequency: 3.281808933083916e-4
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South Asian
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allele frequency: 3.136762860727729e-4
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European (Finnish)
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allele frequency: 3.243593902043464e-4
allele num: 6166
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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Other
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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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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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SIO_000300: 1.831377e6

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
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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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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.655629139072848e-4
allele num: 6040
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European (Non-Finnish)
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allele frequency: 1.756975191510296e-5
allele num: 56916
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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European (Non-Finnish)
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allele frequency: 1.756975191510296e-5
allele num: 56916
num of homozygotes: 0

East Asian
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European (Finnish)
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.775163e6

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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allele count: 1
allele frequency: 1.655629139072848e-4
allele num: 6040
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Latino
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allele frequency: 1.896094046264695e-4
allele num: 10548
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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DP
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GenotypeQuality
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bin: 6.25e1
variant carriers: 40

African
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allele count: 50
allele frequency: 5.955216769890424e-3
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Other
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allele frequency: 7.317073170731708e-3
allele num: 820
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Latino
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allele count: 71
allele frequency: 6.731133864239666e-3
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East Asian
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allele frequency: 1.474135620477084e-3
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European (Finnish)
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allele frequency: 5.629139072847682e-3
allele num: 6040
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European (Non-Finnish)
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allele count: 473
allele frequency: 8.3104926558437e-3
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South Asian
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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Latino
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East Asian
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Other
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European (Finnish)
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African
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South Asian
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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variant carriers: 20

African
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Latino
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European (Finnish)
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allele frequency: 1.718213058419244e-2
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 9.70827808297026e-3
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QD
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele frequency: 2.945508100147275e-3
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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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East Asian
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African
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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European (Non-Finnish)
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Other
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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DP
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QD
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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African
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Latino
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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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East Asian
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QD
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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Other
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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DP
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VQSLOD
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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South Asian
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VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.0362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.389e-1

DP
type: SiteQuality
SIO_000300: 1.665069e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 3.28e0

GenotypeQuality
all individuals: 2702
bin: 6.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 3
allele frequency: 7.170172084130019e-4
allele num: 4184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.636498729686976e-4
allele num: 41722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.171269815329302e-5
allele num: 12238
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.942339373970346e-4
allele num: 6070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.80635838150289e-4
allele num: 5536
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.858776443682104e-4
allele num: 6996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 5.381e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

QD
type: SiteQuality
SIO_000300: 8.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.648e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.739738e6

MQ
type: SiteQuality
SIO_000300: 5.833e1

GenotypeQuality
all individuals: 815
bin: 9.75e1
variant carriers: 28

Latino
type: Population
allele count: 19
allele frequency: 2.32501223690651e-3
allele num: 8172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 2.083420142505938e-3
allele num: 47998
num of homozygotes: 1

South Asian
type: Population
allele count: 12
allele frequency: 8.445945945945946e-4
allele num: 14208
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.996927803379416e-3
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 7.422802850356294e-4
allele num: 6736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 4.110152075626798e-3
allele num: 4866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.735422e6

QD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 1.3002e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.857e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 2760
bin: 4.75e1
variant carriers: 29

European (Finnish)
type: Population
allele count: 51
allele frequency: 1.03071948261924e-2
allele num: 4948
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 3.232758620689655e-3
allele num: 13920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 288
allele frequency: 6.06929107308438e-3
allele num: 47452
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 4.923761118170267e-3
allele num: 6296
num of homozygotes: 0

African
type: Population
allele count: 51
allele frequency: 7.602862254025045e-3
allele num: 6708
num of homozygotes: 1

Latino
type: Population
allele count: 83
allele frequency: 1.032595172928589e-2
allele num: 8038
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.780346820809248e-3
allele num: 692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 1.7767e1

VQSLOD
type: SiteQuality
SIO_000300: -3.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.730599e6

QD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

GenotypeQuality
all individuals: 3854
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.573340195573855e-5
allele num: 38860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.047502047502048e-4
allele num: 4884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.756303e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.719e0

QD
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 2.892e1

MQ
type: SiteQuality
SIO_000300: 5.837e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 1296
bin: 5.25e1
variant carriers: 57

European (Finnish)
type: Population
allele count: 222
allele frequency: 5.623100303951368e-2
allele num: 3948
num of homozygotes: 0

East Asian
type: Population
allele count: 159
allele frequency: 3.255528255528255e-2
allele num: 4884
num of homozygotes: 0

African
type: Population
allele count: 143
allele frequency: 2.60948905109489e-2
allele num: 5480
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 2.014652014652015e-2
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 283
allele frequency: 4.208804283164783e-2
allele num: 6724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 814
allele frequency: 2.094698919197118e-2
allele num: 38860
num of homozygotes: 1

South Asian
type: Population
allele count: 163
allele frequency: 1.479128856624319e-2
allele num: 11020
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 2.892e1

QD
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.719e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

DP
type: SiteQuality
SIO_000300: 1.756303e6

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 21

South Asian
type: Population
allele count: 136
allele frequency: 4.638472032742155e-2
allele num: 2932
num of homozygotes: 1

Latino
type: Population
allele count: 138
allele frequency: 4.035087719298246e-2
allele num: 3420
num of homozygotes: 0

East Asian
type: Population
allele count: 104
allele frequency: 5.882352941176471e-2
allele num: 1768
num of homozygotes: 0

African
type: Population
allele count: 81
allele frequency: 2.188006482982172e-2
allele num: 3702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 599
allele frequency: 4.372901153453059e-2
allele num: 13698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 106
allele frequency: 3.90279823269514e-2
allele num: 2716
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 5.46218487394958e-2
allele num: 238
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.365553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.56e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

QD
type: SiteQuality
SIO_000300: 3.75e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

GenotypeQuality
all individuals: 1386
bin: 1.75e1
variant carriers: 8

East Asian
type: Population
allele count: 4
allele frequency: 2.262443438914027e-3
allele num: 1768
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 3.751705320600273e-3
allele num: 2932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 2.482114177252154e-3
allele num: 13698
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.160994057266343e-3
allele num: 3702
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.046783625730994e-3
allele num: 3420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.209131075110457e-3
allele num: 2716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 1.56e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.365553e6

South Asian
type: Population
allele count: 71
allele frequency: 2.421555252387449e-2
allele num: 2932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 336
allele frequency: 2.452912833990364e-2
allele num: 13698
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 2.100840336134454e-2
allele num: 238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

FS
type: SiteQuality
SIO_000300: 1.56e1

QD
type: SiteQuality
SIO_000300: 3.75e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

DP
type: SiteQuality
SIO_000300: 1.365553e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 574
bin: 7.25e1
variant carriers: 73

European (Non-Finnish)
type: Population
allele count: 629
allele frequency: 4.591911227916484e-2
allele num: 13698
num of homozygotes: 0

East Asian
type: Population
allele count: 101
allele frequency: 5.712669683257918e-2
allele num: 1768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 114
allele frequency: 4.197349042709867e-2
allele num: 2716
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 1.998919502971367e-2
allele num: 3702
num of homozygotes: 0

South Asian
type: Population
allele count: 230
allele frequency: 7.844474761255116e-2
allele num: 2932
num of homozygotes: 0

Latino
type: Population
allele count: 200
allele frequency: 5.847953216374269e-2
allele num: 3420
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 3.781512605042017e-2
allele num: 238
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.852e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.56e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.365553e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

QD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

European (Non-Finnish)
type: Population
allele count: 3124
allele frequency: 2.280624908745802e-1
allele num: 13698
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 557
allele frequency: 2.05081001472754e-1
allele num: 2716
num of homozygotes: 1

South Asian
type: Population
allele count: 483
allele frequency: 1.647339699863574e-1
allele num: 2932
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 1.56e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.365553e6

MQ
type: SiteQuality
SIO_000300: 5.852e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

GenotypeQuality
all individuals: 768
bin: 5.75e1
variant carriers: 212

Other
type: Population
allele count: 25
allele frequency: 1.050420168067227e-1
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 196
allele frequency: 5.294435440302539e-2
allele num: 3702
num of homozygotes: 2

East Asian
type: Population
allele count: 164
allele frequency: 9.276018099547512e-2
allele num: 1768
num of homozygotes: 0

Latino
type: Population
allele count: 224
allele frequency: 6.549707602339182e-2
allele num: 3420
num of homozygotes: 0

South Asian
type: Population
allele count: 246
allele frequency: 8.390177353342429e-2
allele num: 2932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1254
allele frequency: 9.154621112571178e-2
allele num: 13698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 312
allele frequency: 1.148748159057437e-1
allele num: 2716
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.666e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.56e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

DP
type: SiteQuality
SIO_000300: 1.365553e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.75e0

GenotypeQuality
all individuals: 4277
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.304758368256326e-5
allele num: 37702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 5.7e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.146e0

DP
type: SiteQuality
SIO_000300: 1.683651e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

GenotypeQuality
all individuals: 2244
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.714089818306479e-4
allele num: 5834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.842e1

FS
type: SiteQuality
SIO_000300: 5.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.302e0