3-195513783-GGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513783
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513735
    reference: chr 3
allele count: 51
allele frequency: 2.96753171185849e-3
allele num: 17186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Ser1541_Thr1556del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1541_Thr1556del
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTA
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

3-195513783-G-GGCTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513783
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513787
    reference: chr 3
allele count: 2
allele frequency: 1.163737926219015e-4
allele num: 17186
alternate allele: GGCTA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4667_4668insTAGC
  hgvsp: ENSP00000419798.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8458_83-8457insTAGC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4667_4668insTAGC
  hgvsp: ENSP00000417757.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4667_4668insTAGC
  hgvsp: ENSP00000417722.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4667_4668insTAGC
  hgvsp: ENSP00000420439.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4667_4668insTAGC
  hgvsp: ENSP00000420243.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4667_4668insTAGC
  hgvsp: ENSP00000418306.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4667_4668insTAGC
  hgvsp: ENSP00000417657.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4667_4668insTAGC
  hgvsp: ENSP00000417397.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4667_4668insTAGC
  hgvsp: ENSP00000419989.1:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12608_83-12607insTAGC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4667_4668insTAGC
  hgvsp: ENSP00000417498.3:p.Asp1557SerfsTer42
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1557SerfsTer42
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-195513787-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513787
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513787
    reference: chr 3
allele count: 2
allele frequency: 1.201056930098487e-4
allele num: 16652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4664T>G
  hgvsp: ENSP00000417722.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4664T>G
  hgvsp: ENSP00000417657.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4664T>G
  hgvsp: ENSP00000419798.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4664T>G
  hgvsp: ENSP00000419989.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4664T>G
  hgvsp: ENSP00000418306.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4664T>G
  hgvsp: ENSP00000417757.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4664T>G
  hgvsp: ENSP00000420439.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4664T>G
  hgvsp: ENSP00000417498.3:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4664T>G
  hgvsp: ENSP00000417397.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8461T>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4664T>G
  hgvsp: ENSP00000420243.1:p.Val1555Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12611T>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1555Gly
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS

3-195513791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513791
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513791
    reference: chr 3
allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4660C>T
  hgvsp: ENSP00000417397.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4660C>T
  hgvsp: ENSP00000418306.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4660C>T
  hgvsp: ENSP00000417498.3:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4660C>T
  hgvsp: ENSP00000417657.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4660C>T
  hgvsp: ENSP00000419798.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8465C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12615C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4660C>T
  hgvsp: ENSP00000419989.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4660C>T
  hgvsp: ENSP00000417757.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4660C>T
  hgvsp: ENSP00000420439.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4660C>T
  hgvsp: ENSP00000417722.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4660C>T
  hgvsp: ENSP00000420243.1:p.Pro1554Ser
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1554Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-195513791-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513791
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513791
    reference: chr 3
allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4660C>A
  hgvsp: ENSP00000420439.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12615C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4660C>A
  hgvsp: ENSP00000417397.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8465C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4660C>A
  hgvsp: ENSP00000417722.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4660C>A
  hgvsp: ENSP00000417498.3:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4660C>A
  hgvsp: ENSP00000419798.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4660C>A
  hgvsp: ENSP00000419989.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4660C>A
  hgvsp: ENSP00000418306.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4660C>A
  hgvsp: ENSP00000420243.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4660C>A
  hgvsp: ENSP00000417657.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4660C>A
  hgvsp: ENSP00000417757.1:p.Pro1554Thr
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1554Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

3-195513794-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513794
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513794
    reference: chr 3
allele count: 85
allele frequency: 5.521631804599194e-3
allele num: 15394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4657C>G
  hgvsp: ENSP00000420439.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4657C>G
  hgvsp: ENSP00000417757.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4657C>G
  hgvsp: ENSP00000419989.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4657C>G
  hgvsp: ENSP00000417657.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8468C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4657C>G
  hgvsp: ENSP00000417722.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12618C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4657C>G
  hgvsp: ENSP00000418306.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4657C>G
  hgvsp: ENSP00000417498.3:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4657C>G
  hgvsp: ENSP00000419798.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4657C>G
  hgvsp: ENSP00000420243.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4657C>G
  hgvsp: ENSP00000417397.1:p.Leu1553Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Leu1553Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-195513796-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513796
    reference: chr 3
allele count: 1
allele frequency: 6.657789613848202e-5
allele num: 15020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12620C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4655C>A
  hgvsp: ENSP00000417722.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4655C>A
  hgvsp: ENSP00000418306.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4655C>A
  hgvsp: ENSP00000420439.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4655C>A
  hgvsp: ENSP00000419989.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4655C>A
  hgvsp: ENSP00000420243.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4655C>A
  hgvsp: ENSP00000419798.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4655C>A
  hgvsp: ENSP00000417657.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4655C>A
  hgvsp: ENSP00000417498.3:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4655C>A
  hgvsp: ENSP00000417397.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8470C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4655C>A
  hgvsp: ENSP00000417757.1:p.Pro1552His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1552His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-195513797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513797
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513797
    reference: chr 3
allele count: 1
allele frequency: 6.778741865509762e-5
allele num: 14752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4654C>T
  hgvsp: ENSP00000419798.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4654C>T
  hgvsp: ENSP00000417722.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12621C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4654C>T
  hgvsp: ENSP00000417397.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4654C>T
  hgvsp: ENSP00000417657.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4654C>T
  hgvsp: ENSP00000417757.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4654C>T
  hgvsp: ENSP00000419989.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4654C>T
  hgvsp: ENSP00000420243.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4654C>T
  hgvsp: ENSP00000417498.3:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4654C>T
  hgvsp: ENSP00000420439.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4654C>T
  hgvsp: ENSP00000418306.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8471C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1552Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

3-195513798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513798
    reference: chr 3
allele count: 1
allele frequency: 6.894649751792609e-5
allele num: 14504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4653C>T
  hgvsp: ENST00000479406.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4653C>T
  hgvsp: ENST00000462323.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4653C>T
  hgvsp: ENST00000470451.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12622C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4653C>T
  hgvsp: ENST00000477756.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4653C>T
  hgvsp: ENST00000463781.3:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4653C>T
  hgvsp: ENST00000466475.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4653C>T
  hgvsp: ENST00000480843.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4653C>T
  hgvsp: ENST00000477086.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8472C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4653C>T
  hgvsp: ENST00000475231.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4653C>T
  hgvsp: ENST00000478156.1:c.4653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1551Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-195513798-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513798
    reference: chr 3
allele count: 2
allele frequency: 1.378929950358522e-4
allele num: 14504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4653C>G
  hgvsp: ENST00000477756.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4653C>G
  hgvsp: ENST00000470451.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8472C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4653C>G
  hgvsp: ENST00000478156.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4653C>G
  hgvsp: ENST00000477086.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4653C>G
  hgvsp: ENST00000463781.3:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4653C>G
  hgvsp: ENST00000480843.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4653C>G
  hgvsp: ENST00000466475.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4653C>G
  hgvsp: ENST00000462323.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4653C>G
  hgvsp: ENST00000479406.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12622C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4653C>G
  hgvsp: ENST00000475231.1:c.4653C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1551Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-195513799-GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513751
    reference: chr 3
allele count: 5981
allele frequency: 3.013098236775819e-1
allele num: 19850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Met1535_Thr1550del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 2347
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 343
genotype quality: GenotypeQuality
hgvs: p.Met1535_Thr1550del
num of homozygotes: 3
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

3-195513799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
allele count: 18
allele frequency: 9.068010075566751e-4
allele num: 19850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4652C>T
  hgvsp: ENSP00000420439.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4652C>T
  hgvsp: ENSP00000419989.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12623C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4652C>T
  hgvsp: ENSP00000420243.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4652C>T
  hgvsp: ENSP00000417498.3:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4652C>T
  hgvsp: ENSP00000417397.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4652C>T
  hgvsp: ENSP00000419798.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4652C>T
  hgvsp: ENSP00000417757.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4652C>T
  hgvsp: ENSP00000417657.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4652C>T
  hgvsp: ENSP00000418306.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8473C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4652C>T
  hgvsp: ENSP00000417722.1:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1551Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-195513799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
allele count: 1
allele frequency: 5.037783375314862e-5
allele num: 19850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8473C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4652C>A
  hgvsp: ENSP00000420243.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4652C>A
  hgvsp: ENSP00000417722.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4652C>A
  hgvsp: ENSP00000419798.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4652C>A
  hgvsp: ENSP00000419989.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4652C>A
  hgvsp: ENSP00000417757.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4652C>A
  hgvsp: ENSP00000417397.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4652C>A
  hgvsp: ENSP00000420439.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4652C>A
  hgvsp: ENSP00000418306.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4652C>A
  hgvsp: ENSP00000417498.3:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4652C>A
  hgvsp: ENSP00000417657.1:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12623C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1551Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-195513799-GTGGTGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513793
    reference: chr 3
allele count: 1
allele frequency: 5.037783375314862e-5
allele num: 19850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4646_4651delACACCA
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1549_Thr1551delinsAla
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GTGGTGT
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-195513801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513801
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513801
    reference: chr 3
allele count: 2
allele frequency: 2.107481559536354e-4
allele num: 9490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4650C>G
  hgvsp: ENST00000477756.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4650C>G
  hgvsp: ENST00000478156.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8475C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4650C>G
  hgvsp: ENST00000480843.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4650C>G
  hgvsp: ENST00000477086.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4650C>G
  hgvsp: ENST00000475231.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4650C>G
  hgvsp: ENST00000466475.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4650C>G
  hgvsp: ENST00000462323.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12625C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4650C>G
  hgvsp: ENST00000470451.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4650C>G
  hgvsp: ENST00000463781.3:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4650C>G
  hgvsp: ENST00000479406.1:c.4650C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1550Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-195513802-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513802
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513804
    reference: chr 3
allele count: 1
allele frequency: 1.296008294453084e-4
allele num: 7716
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4648_4649insGG
  hgvsp: ENSP00000417397.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4648_4649insGG
  hgvsp: ENSP00000417757.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4648_4649insGG
  hgvsp: ENSP00000419989.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4648_4649insGG
  hgvsp: ENSP00000420439.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12627_83-12626insGG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4648_4649insGG
  hgvsp: ENSP00000419798.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4648_4649insGG
  hgvsp: ENSP00000420243.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4648_4649insGG
  hgvsp: ENSP00000417657.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4648_4649insGG
  hgvsp: ENSP00000417498.3:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4648_4649insGG
  hgvsp: ENSP00000417722.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8477_83-8476insGG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4648_4649insGG
  hgvsp: ENSP00000418306.1:p.Thr1550ArgfsTer1455
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1550ArgfsTer1455
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-195513802-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513802
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513802
    reference: chr 3
allele count: 1
allele frequency: 1.296008294453084e-4
allele num: 7716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4649C>A
  hgvsp: ENSP00000420439.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4649C>A
  hgvsp: ENSP00000420243.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4649C>A
  hgvsp: ENSP00000417498.3:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4649C>A
  hgvsp: ENSP00000417397.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4649C>A
  hgvsp: ENSP00000419798.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4649C>A
  hgvsp: ENSP00000419989.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4649C>A
  hgvsp: ENSP00000417722.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8476C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12626C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4649C>A
  hgvsp: ENSP00000417757.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4649C>A
  hgvsp: ENSP00000418306.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4649C>A
  hgvsp: ENSP00000417657.1:p.Thr1550Asn
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1550Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-195513803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513803
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513803
    reference: chr 3
allele count: 35
allele frequency: 3.846153846153846e-3
allele num: 9100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4648A>G
  hgvsp: ENSP00000417397.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4648A>G
  hgvsp: ENSP00000417757.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4648A>G
  hgvsp: ENSP00000419989.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4648A>G
  hgvsp: ENSP00000420439.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4648A>G
  hgvsp: ENSP00000419798.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8477A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4648A>G
  hgvsp: ENSP00000417498.3:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12627A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4648A>G
  hgvsp: ENSP00000418306.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4648A>G
  hgvsp: ENSP00000420243.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4648A>G
  hgvsp: ENSP00000417657.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4648A>G
  hgvsp: ENSP00000417722.1:p.Thr1550Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr1550Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-195513804-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513802
    reference: chr 3
allele count: 1
allele frequency: 1.304121022430882e-4
allele num: 7668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4645_4646delGA
  hgvsp: ENSP00000419989.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4645_4646delGA
  hgvsp: ENSP00000419798.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12630_83-12629delGA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4645_4646delGA
  hgvsp: ENSP00000417498.3:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4645_4646delGA
  hgvsp: ENSP00000417722.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4645_4646delGA
  hgvsp: ENSP00000417397.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4645_4646delGA
  hgvsp: ENSP00000417657.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4645_4646delGA
  hgvsp: ENSP00000420439.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4645_4646delGA
  hgvsp: ENSP00000420243.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4645_4646delGA
  hgvsp: ENSP00000418306.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4645_4646delGA
  hgvsp: ENSP00000417757.1:p.Asp1549HisfsTer48
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8480_83-8479delGA
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1549HisfsTer48
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: GTC
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-195513806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
allele count: 61
allele frequency: 8.09447983014862e-3
allele num: 7536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4645G>C
  hgvsp: ENSP00000417722.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8480G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4645G>C
  hgvsp: ENSP00000419989.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4645G>C
  hgvsp: ENSP00000417657.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4645G>C
  hgvsp: ENSP00000420439.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4645G>C
  hgvsp: ENSP00000418306.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12630G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4645G>C
  hgvsp: ENSP00000417757.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4645G>C
  hgvsp: ENSP00000419798.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4645G>C
  hgvsp: ENSP00000417498.3:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4645G>C
  hgvsp: ENSP00000417397.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4645G>C
  hgvsp: ENSP00000420243.1:p.Asp1549His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp1549His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-195513806-CACCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513802
    reference: chr 3
allele count: 25
allele frequency: 3.317409766454353e-3
allele num: 7536
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2984
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 6.172839506172839e-3
  allele num: 162
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 76
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 6
  allele frequency: 4.411764705882353e-2
  allele num: 136
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CACCT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-195513806-CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513764
    reference: chr 3
allele count: 1
allele frequency: 1.326963906581741e-4
allele num: 7536
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 926
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 162
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 536
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2716
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
reference allele: CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCAT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

3-195513806-CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513734
    reference: chr 3
allele count: 1
allele frequency: 1.326963906581741e-4
allele num: 7536
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2716
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 162
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2984
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 7.352941176470588e-3
  allele num: 136
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
reference allele: CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCT
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

3-195513806-CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513710
    reference: chr 3
allele count: 1
allele frequency: 1.326963906581741e-4
allele num: 7536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.His1517_Gly1548del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1517_Gly1548del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: CACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-195513808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513808
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513808
    reference: chr 3
allele count: 1
allele frequency: 1.329787234042553e-4
allele num: 7520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4643G>A
  hgvsp: ENSP00000417757.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4643G>A
  hgvsp: ENSP00000417657.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4643G>A
  hgvsp: ENSP00000419989.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12632G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4643G>A
  hgvsp: ENSP00000420439.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4643G>A
  hgvsp: ENSP00000418306.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4643G>A
  hgvsp: ENSP00000417722.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4643G>A
  hgvsp: ENSP00000417498.3:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4643G>A
  hgvsp: ENSP00000417397.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4643G>A
  hgvsp: ENSP00000420243.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8482G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4643G>A
  hgvsp: ENSP00000419798.1:p.Gly1548Asp
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1548Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

3-195513810-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513810
    reference: chr 3
allele count: 26
allele frequency: 2.681518151815181e-3
allele num: 9696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4641A>C
  hgvsp: ENST00000470451.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4641A>C
  hgvsp: ENST00000477086.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4641A>C
  hgvsp: ENST00000477756.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4641A>C
  hgvsp: ENST00000466475.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4641A>C
  hgvsp: ENST00000478156.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4641A>C
  hgvsp: ENST00000463781.3:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4641A>C
  hgvsp: ENST00000479406.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4641A>C
  hgvsp: ENST00000480843.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12634A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4641A>C
  hgvsp: ENST00000475231.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8484A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4641A>C
  hgvsp: ENST00000462323.1:c.4641A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr1547Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-195513811-GTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513811
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513768
    reference: chr 3
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Asp1533GlnfsTer1457
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp1533GlnfsTer1457
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: GTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTC
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

3-195513812-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513812
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513812
    reference: chr 3
allele count: 1
allele frequency: 1.278445410380977e-4
allele num: 7822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4639A>T
  hgvsp: ENSP00000419798.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8486A>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4639A>T
  hgvsp: ENSP00000417757.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4639A>T
  hgvsp: ENSP00000419989.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4639A>T
  hgvsp: ENSP00000417397.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4639A>T
  hgvsp: ENSP00000420439.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4639A>T
  hgvsp: ENSP00000417498.3:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4639A>T
  hgvsp: ENSP00000417722.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4639A>T
  hgvsp: ENSP00000417657.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4639A>T
  hgvsp: ENSP00000420243.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4639A>T
  hgvsp: ENSP00000418306.1:p.Thr1547Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12636A>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1547Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

3-195513815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513815
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513815
    reference: chr 3
allele count: 10
allele frequency: 1.188777936281503e-3
allele num: 8412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8489T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4636T>C
  hgvsp: ENSP00000420243.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4636T>C
  hgvsp: ENSP00000417722.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4636T>C
  hgvsp: ENSP00000417657.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4636T>C
  hgvsp: ENSP00000417498.3:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4636T>C
  hgvsp: ENSP00000418306.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4636T>C
  hgvsp: ENSP00000417397.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4636T>C
  hgvsp: ENSP00000419798.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4636T>C
  hgvsp: ENSP00000419989.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4636T>C
  hgvsp: ENSP00000420439.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4636T>C
  hgvsp: ENSP00000417757.1:p.Ser1546Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12639T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1546Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-195513817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513817
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513817
    reference: chr 3
allele count: 11
allele frequency: 1.489707475622969e-3
allele num: 7384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4634C>T
  hgvsp: ENSP00000417397.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4634C>T
  hgvsp: ENSP00000419798.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4634C>T
  hgvsp: ENSP00000419989.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4634C>T
  hgvsp: ENSP00000417498.3:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4634C>T
  hgvsp: ENSP00000420439.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4634C>T
  hgvsp: ENSP00000418306.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4634C>T
  hgvsp: ENSP00000420243.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8491C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4634C>T
  hgvsp: ENSP00000417722.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4634C>T
  hgvsp: ENSP00000417657.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4634C>T
  hgvsp: ENSP00000417757.1:p.Ala1545Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12641C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala1545Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-195513821-AGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513819
    reference: chr 3
allele count: 1
allele frequency: 1.339405304045004e-4
allele num: 7466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4628_4629delCC
  hgvsp: ENSP00000419798.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4628_4629delCC
  hgvsp: ENSP00000419989.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12647_83-12646delCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4628_4629delCC
  hgvsp: ENSP00000417657.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4628_4629delCC
  hgvsp: ENSP00000420439.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4628_4629delCC
  hgvsp: ENSP00000418306.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4628_4629delCC
  hgvsp: ENSP00000417722.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4628_4629delCC
  hgvsp: ENSP00000417757.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4628_4629delCC
  hgvsp: ENSP00000417498.3:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8497_83-8496delCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4628_4629delCC
  hgvsp: ENSP00000420243.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4628_4629delCC
  hgvsp: ENSP00000417397.1:p.Ser1543PhefsTer6
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1543PhefsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: AGG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

3-195513821-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513821
    reference: chr 3
allele count: 1
allele frequency: 1.339405304045004e-4
allele num: 7466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4630T>A
  hgvsp: ENSP00000418306.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12645T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4630T>A
  hgvsp: ENSP00000417397.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4630T>A
  hgvsp: ENSP00000420243.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4630T>A
  hgvsp: ENSP00000417722.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4630T>A
  hgvsp: ENSP00000419989.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4630T>A
  hgvsp: ENSP00000419798.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4630T>A
  hgvsp: ENSP00000420439.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4630T>A
  hgvsp: ENSP00000417498.3:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4630T>A
  hgvsp: ENSP00000417757.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8495T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4630T>A
  hgvsp: ENSP00000417657.1:p.Ser1544Thr
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1544Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-195513824-AAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513824
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513778
    reference: chr 3
allele count: 2
allele frequency: 2.339728591483388e-4
allele num: 8548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Ser1528ProfsTer1461
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1528ProfsTer1461
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: AAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-195513825-AGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513825
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513822
    reference: chr 3
allele count: 1
allele frequency: 1.206563706563707e-4
allele num: 8288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8502_83-8500delCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4623_4625delCCC
  hgvsp: ENSP00000417498.3:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4623_4625delCCC
  hgvsp: ENSP00000417757.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4623_4625delCCC
  hgvsp: ENSP00000417657.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4623_4625delCCC
  hgvsp: ENSP00000419798.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4623_4625delCCC
  hgvsp: ENSP00000417722.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4623_4625delCCC
  hgvsp: ENSP00000419989.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4623_4625delCCC
  hgvsp: ENSP00000417397.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4623_4625delCCC
  hgvsp: ENSP00000420439.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4623_4625delCCC
  hgvsp: ENSP00000418306.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12652_83-12650delCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4623_4625delCCC
  hgvsp: ENSP00000420243.1:p.Pro1542del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1542del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: AGGG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

3-195513826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513826
    reference: chr 3
allele count: 83
allele frequency: 1.237328562909958e-2
allele num: 6708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4625C>T
  hgvsp: ENSP00000417757.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4625C>T
  hgvsp: ENSP00000420243.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4625C>T
  hgvsp: ENSP00000418306.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4625C>T
  hgvsp: ENSP00000417722.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8500C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4625C>T
  hgvsp: ENSP00000417657.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12650C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4625C>T
  hgvsp: ENSP00000419989.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4625C>T
  hgvsp: ENSP00000420439.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4625C>T
  hgvsp: ENSP00000417498.3:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4625C>T
  hgvsp: ENSP00000417397.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4625C>T
  hgvsp: ENSP00000419798.1:p.Pro1542Leu
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1542Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-195513826-G-GTGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513830
    reference: chr 3
allele count: 1
allele frequency: 1.490757304710793e-4
allele num: 6708
alternate allele: GTGTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4624_4625insGACA
  hgvsp: ENSP00000417657.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4624_4625insGACA
  hgvsp: ENSP00000419798.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4624_4625insGACA
  hgvsp: ENSP00000417498.3:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4624_4625insGACA
  hgvsp: ENSP00000417757.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4624_4625insGACA
  hgvsp: ENSP00000419989.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4624_4625insGACA
  hgvsp: ENSP00000420243.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4624_4625insGACA
  hgvsp: ENSP00000418306.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4624_4625insGACA
  hgvsp: ENSP00000420439.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12651_83-12650insGACA
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4624_4625insGACA
  hgvsp: ENSP00000417397.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4624_4625insGACA
  hgvsp: ENSP00000417722.1:p.Pro1542ArgfsTer9
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8501_83-8500insGACA
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1542ArgfsTer9
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-195513826-GGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513778
    reference: chr 3
allele count: 1
allele frequency: 1.490757304710793e-4
allele num: 6708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1526_Ser1541del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

3-195513827-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513827
    reference: chr 3
allele count: 1
allele frequency: 1.417233560090703e-4
allele num: 7056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12651C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4624C>A
  hgvsp: ENSP00000417657.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4624C>A
  hgvsp: ENSP00000419798.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4624C>A
  hgvsp: ENSP00000420439.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4624C>A
  hgvsp: ENSP00000417397.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4624C>A
  hgvsp: ENSP00000417722.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4624C>A
  hgvsp: ENSP00000417757.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4624C>A
  hgvsp: ENSP00000420243.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8501C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4624C>A
  hgvsp: ENSP00000419989.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4624C>A
  hgvsp: ENSP00000417498.3:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4624C>A
  hgvsp: ENSP00000418306.1:p.Pro1542Thr
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1542Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-195513827-GGCTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513823
    reference: chr 3
allele count: 1
allele frequency: 1.417233560090703e-4
allele num: 7056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8505_83-8502delTAGC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4620_4623delTAGC
  hgvsp: ENSP00000418306.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4620_4623delTAGC
  hgvsp: ENSP00000417498.3:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4620_4623delTAGC
  hgvsp: ENSP00000417657.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12655_83-12652delTAGC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4620_4623delTAGC
  hgvsp: ENSP00000420243.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4620_4623delTAGC
  hgvsp: ENSP00000417397.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4620_4623delTAGC
  hgvsp: ENSP00000417722.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4620_4623delTAGC
  hgvsp: ENSP00000419798.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4620_4623delTAGC
  hgvsp: ENSP00000419989.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4620_4623delTAGC
  hgvsp: ENSP00000420439.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4620_4623delTAGC
  hgvsp: ENSP00000417757.1:p.Ser1541LeufsTer1462
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1541LeufsTer1462
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: GGCTA
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

3-195513828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513828
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513828
    reference: chr 3
allele count: 2
allele frequency: 2.668089647812167e-4
allele num: 7496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4623C>T
  hgvsp: ENST00000470451.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4623C>T
  hgvsp: ENST00000475231.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4623C>T
  hgvsp: ENST00000478156.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4623C>T
  hgvsp: ENST00000463781.3:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4623C>T
  hgvsp: ENST00000477086.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4623C>T
  hgvsp: ENST00000477756.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12652C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4623C>T
  hgvsp: ENST00000466475.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4623C>T
  hgvsp: ENST00000462323.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4623C>T
  hgvsp: ENST00000480843.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4623C>T
  hgvsp: ENST00000479406.1:c.4623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8502C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1541Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-195513829-CTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513829
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513784
    reference: chr 3
allele count: 1
allele frequency: 1.133016088828461e-4
allele num: 8826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1526_Ser1541delinsArg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: CTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAA
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

3-195513831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513831
    reference: chr 3
allele count: 65
allele frequency: 9.905516610789393e-3
allele num: 6562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12655T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4620T>C
  hgvsp: ENST00000477086.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4620T>C
  hgvsp: ENST00000480843.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4620T>C
  hgvsp: ENST00000479406.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8505T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4620T>C
  hgvsp: ENST00000463781.3:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4620T>C
  hgvsp: ENST00000475231.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4620T>C
  hgvsp: ENST00000477756.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4620T>C
  hgvsp: ENST00000470451.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4620T>C
  hgvsp: ENST00000478156.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4620T>C
  hgvsp: ENST00000466475.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4620T>C
  hgvsp: ENST00000462323.1:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Thr1540Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-195513831-AGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513783
    reference: chr 3
allele count: 1
allele frequency: 1.523925632429137e-4
allele num: 6562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Leu1526_Ser1541del
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1526_Ser1541del
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: AGTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTG
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-195513838-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513838
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513838
    reference: chr 3
allele count: 2
allele frequency: 1.771165426850868e-4
allele num: 11292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4613C>A
  hgvsp: ENSP00000420243.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4613C>A
  hgvsp: ENSP00000417657.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4613C>A
  hgvsp: ENSP00000417498.3:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8512C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4613C>A
  hgvsp: ENSP00000418306.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4613C>A
  hgvsp: ENSP00000419798.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4613C>A
  hgvsp: ENSP00000419989.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4613C>A
  hgvsp: ENSP00000417757.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12662C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4613C>A
  hgvsp: ENSP00000417722.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4613C>A
  hgvsp: ENSP00000420439.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4613C>A
  hgvsp: ENSP00000417397.1:p.Pro1538His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1538His
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

3-195513846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513846
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513846
    reference: chr 3
allele count: 3
allele frequency: 4.772510340439071e-4
allele num: 6286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4605G>C
  hgvsp: ENSP00000417397.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4605G>C
  hgvsp: ENSP00000420439.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4605G>C
  hgvsp: ENSP00000417757.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4605G>C
  hgvsp: ENSP00000418306.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4605G>C
  hgvsp: ENSP00000420243.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4605G>C
  hgvsp: ENSP00000417498.3:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4605G>C
  hgvsp: ENSP00000419989.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8520G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4605G>C
  hgvsp: ENSP00000417657.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12670G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4605G>C
  hgvsp: ENSP00000417722.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4605G>C
  hgvsp: ENSP00000419798.1:p.Met1535Ile
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1535Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-195513847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513847
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513847
    reference: chr 3
allele count: 6
allele frequency: 8.23271130625686e-4
allele num: 7288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4604T>C
  hgvsp: ENSP00000419989.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4604T>C
  hgvsp: ENSP00000417498.3:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4604T>C
  hgvsp: ENSP00000417757.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4604T>C
  hgvsp: ENSP00000417397.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4604T>C
  hgvsp: ENSP00000419798.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4604T>C
  hgvsp: ENSP00000417722.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8521T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4604T>C
  hgvsp: ENSP00000418306.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4604T>C
  hgvsp: ENSP00000417657.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4604T>C
  hgvsp: ENSP00000420439.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4604T>C
  hgvsp: ENSP00000420243.1:p.Met1535Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12671T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1535Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-195513850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513850
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513850
    reference: chr 3
allele count: 3
allele frequency: 1.62057044079516e-4
allele num: 18512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4601C>T
  hgvsp: ENSP00000419989.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4601C>T
  hgvsp: ENSP00000417397.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4601C>T
  hgvsp: ENSP00000419798.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4601C>T
  hgvsp: ENSP00000417722.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4601C>T
  hgvsp: ENSP00000418306.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4601C>T
  hgvsp: ENSP00000417498.3:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4601C>T
  hgvsp: ENSP00000417657.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4601C>T
  hgvsp: ENSP00000420243.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4601C>T
  hgvsp: ENSP00000420439.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8524C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4601C>T
  hgvsp: ENSP00000417757.1:p.Thr1534Ile
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12674C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1534Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-195513850-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513850
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513850
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18512
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4601C>G
  hgvsp: ENSP00000417498.3:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4601C>G
  hgvsp: ENSP00000419798.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4601C>G
  hgvsp: ENSP00000419989.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4601C>G
  hgvsp: ENSP00000417722.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12674C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8524C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4601C>G
  hgvsp: ENSP00000418306.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4601C>G
  hgvsp: ENSP00000417397.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4601C>G
  hgvsp: ENSP00000417757.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4601C>G
  hgvsp: ENSP00000420439.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4601C>G
  hgvsp: ENSP00000417657.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4601C>G
  hgvsp: ENSP00000420243.1:p.Thr1534Ser
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1534Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-195513851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513851
    reference: chr 3
allele count: 1
allele frequency: 5.447809980387884e-5
allele num: 18356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4600A>G
  hgvsp: ENSP00000419989.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4600A>G
  hgvsp: ENSP00000417498.3:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4600A>G
  hgvsp: ENSP00000420439.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4600A>G
  hgvsp: ENSP00000417757.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4600A>G
  hgvsp: ENSP00000417397.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4600A>G
  hgvsp: ENSP00000417657.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12675A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4600A>G
  hgvsp: ENSP00000418306.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4600A>G
  hgvsp: ENSP00000417722.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8525A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4600A>G
  hgvsp: ENSP00000419798.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4600A>G
  hgvsp: ENSP00000420243.1:p.Thr1534Ala
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1534Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

3-195513852-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513852
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513852
    reference: chr 3
allele count: 3
allele frequency: 1.624431448992852e-4
allele num: 18468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4599C>A
  hgvsp: ENSP00000417657.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4599C>A
  hgvsp: ENSP00000418306.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4599C>A
  hgvsp: ENSP00000417498.3:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4599C>A
  hgvsp: ENSP00000419989.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12676C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4599C>A
  hgvsp: ENSP00000417397.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4599C>A
  hgvsp: ENSP00000417722.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4599C>A
  hgvsp: ENSP00000419798.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4599C>A
  hgvsp: ENSP00000420439.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4599C>A
  hgvsp: ENSP00000420243.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8526C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4599C>A
  hgvsp: ENSP00000417757.1:p.Asp1533Glu
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1533Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

3-195513865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513865
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513865
    reference: chr 3
allele count: 4
allele frequency: 2.210188971157034e-4
allele num: 18098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4586C>T
  hgvsp: ENSP00000419798.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4586C>T
  hgvsp: ENSP00000418306.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4586C>T
  hgvsp: ENSP00000417722.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4586C>T
  hgvsp: ENSP00000417397.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4586C>T
  hgvsp: ENSP00000417757.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4586C>T
  hgvsp: ENSP00000417657.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4586C>T
  hgvsp: ENSP00000420439.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4586C>T
  hgvsp: ENSP00000419989.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8539C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4586C>T
  hgvsp: ENSP00000420243.1:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12689C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4586C>T
  hgvsp: ENSP00000417498.3:p.Ala1529Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1529Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

3-195513868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513868
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513868
    reference: chr 3
allele count: 1
allele frequency: 5.481254110940583e-5
allele num: 18244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4583C>T
  hgvsp: ENSP00000418306.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12692C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4583C>T
  hgvsp: ENSP00000417498.3:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4583C>T
  hgvsp: ENSP00000417722.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4583C>T
  hgvsp: ENSP00000419798.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4583C>T
  hgvsp: ENSP00000417657.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4583C>T
  hgvsp: ENSP00000420439.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4583C>T
  hgvsp: ENSP00000417757.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4583C>T
  hgvsp: ENSP00000417397.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4583C>T
  hgvsp: ENSP00000419989.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8542C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4583C>T
  hgvsp: ENSP00000420243.1:p.Ser1528Leu
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1528Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-195513874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513874
    reference: chr 3
allele count: 1
allele frequency: 5.756389592447617e-5
allele num: 17372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4577T>C
  hgvsp: ENSP00000419798.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4577T>C
  hgvsp: ENSP00000420439.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4577T>C
  hgvsp: ENSP00000419989.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4577T>C
  hgvsp: ENSP00000417397.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12698T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4577T>C
  hgvsp: ENSP00000417757.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4577T>C
  hgvsp: ENSP00000418306.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4577T>C
  hgvsp: ENSP00000417498.3:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8548T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4577T>C
  hgvsp: ENSP00000420243.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4577T>C
  hgvsp: ENSP00000417722.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4577T>C
  hgvsp: ENSP00000417657.1:p.Leu1526Pro
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1526Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

3-195513874-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513874
    reference: chr 3
allele count: 1
allele frequency: 5.756389592447617e-5
allele num: 17372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4577T>A
  hgvsp: ENSP00000417657.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4577T>A
  hgvsp: ENSP00000418306.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12698T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4577T>A
  hgvsp: ENSP00000420439.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8548T>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4577T>A
  hgvsp: ENSP00000417757.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4577T>A
  hgvsp: ENSP00000417722.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4577T>A
  hgvsp: ENSP00000417498.3:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4577T>A
  hgvsp: ENSP00000419798.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4577T>A
  hgvsp: ENSP00000417397.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4577T>A
  hgvsp: ENSP00000419989.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4577T>A
  hgvsp: ENSP00000420243.1:p.Leu1526His
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1526His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

3-195513874-AGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513826
    reference: chr 3
allele count: 1
allele frequency: 5.756389592447617e-5
allele num: 17372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Pro1510_Ser1525del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1510_Ser1525del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: AGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAG
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-195513877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513877
    reference: chr 3
allele count: 1
allele frequency: 5.52242102937928e-5
allele num: 18108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4574G>C
  hgvsp: ENSP00000419798.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4574G>C
  hgvsp: ENSP00000417757.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4574G>C
  hgvsp: ENSP00000417498.3:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4574G>C
  hgvsp: ENSP00000418306.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4574G>C
  hgvsp: ENSP00000419989.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4574G>C
  hgvsp: ENSP00000417722.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12701G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4574G>C
  hgvsp: ENSP00000420439.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4574G>C
  hgvsp: ENSP00000417657.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4574G>C
  hgvsp: ENSP00000417397.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4574G>C
  hgvsp: ENSP00000420243.1:p.Ser1525Thr
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8551G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1525Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

3-195513878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513878
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513878
    reference: chr 3
allele count: 2
allele frequency: 1.104972375690608e-4
allele num: 18100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12702A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4573A>G
  hgvsp: ENSP00000419798.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4573A>G
  hgvsp: ENSP00000417397.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4573A>G
  hgvsp: ENSP00000417657.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4573A>G
  hgvsp: ENSP00000420439.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4573A>G
  hgvsp: ENSP00000420243.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4573A>G
  hgvsp: ENSP00000418306.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4573A>G
  hgvsp: ENSP00000417722.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4573A>G
  hgvsp: ENSP00000419989.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4573A>G
  hgvsp: ENSP00000417757.1:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8552A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4573A>G
  hgvsp: ENSP00000417498.3:p.Ser1525Gly
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1525Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-195513879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513879
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513879
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4572C>G
  hgvsp: ENST00000477756.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12703C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8553C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4572C>G
  hgvsp: ENST00000466475.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4572C>G
  hgvsp: ENST00000479406.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4572C>G
  hgvsp: ENST00000463781.3:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4572C>G
  hgvsp: ENST00000477086.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4572C>G
  hgvsp: ENST00000478156.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4572C>G
  hgvsp: ENST00000462323.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4572C>G
  hgvsp: ENST00000475231.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4572C>G
  hgvsp: ENST00000480843.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4572C>G
  hgvsp: ENST00000470451.1:c.4572C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1524Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-195513882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513882
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513882
    reference: chr 3
allele count: 2
allele frequency: 1.104728236853734e-4
allele num: 18104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4569C>G
  hgvsp: ENST00000477086.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4569C>G
  hgvsp: ENST00000463781.3:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4569C>G
  hgvsp: ENST00000470451.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4569C>G
  hgvsp: ENST00000466475.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4569C>G
  hgvsp: ENST00000479406.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4569C>G
  hgvsp: ENST00000477756.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12706C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4569C>G
  hgvsp: ENST00000462323.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8556C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4569C>G
  hgvsp: ENST00000480843.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4569C>G
  hgvsp: ENST00000478156.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4569C>G
  hgvsp: ENST00000475231.1:c.4569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1523Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

3-195513884-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513884
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513884
    reference: chr 3
allele count: 1
allele frequency: 5.535259603675413e-5
allele num: 18066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8558G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4567G>C
  hgvsp: ENSP00000417657.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12708G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4567G>C
  hgvsp: ENSP00000417498.3:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4567G>C
  hgvsp: ENSP00000417397.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4567G>C
  hgvsp: ENSP00000419989.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4567G>C
  hgvsp: ENSP00000419798.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4567G>C
  hgvsp: ENSP00000420243.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4567G>C
  hgvsp: ENSP00000417722.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4567G>C
  hgvsp: ENSP00000420439.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4567G>C
  hgvsp: ENSP00000417757.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4567G>C
  hgvsp: ENSP00000418306.1:p.Val1523Leu
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1523Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-195513886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513886
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513886
    reference: chr 3
allele count: 2
allele frequency: 1.119820828667413e-4
allele num: 17860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4565C>T
  hgvsp: ENSP00000417498.3:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4565C>T
  hgvsp: ENSP00000420439.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4565C>T
  hgvsp: ENSP00000417757.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4565C>T
  hgvsp: ENSP00000420243.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4565C>T
  hgvsp: ENSP00000417722.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12710C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4565C>T
  hgvsp: ENSP00000419798.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4565C>T
  hgvsp: ENSP00000417397.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4565C>T
  hgvsp: ENSP00000417657.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4565C>T
  hgvsp: ENSP00000419989.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4565C>T
  hgvsp: ENSP00000418306.1:p.Pro1522Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8560C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1522Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-195513894-GGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513894
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513846
    reference: chr 3
allele count: 2
allele frequency: 1.12346927311538e-4
allele num: 17802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.His1506_Leu1521del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1506_Leu1521del
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: GGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGA
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

3-195513897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513897
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513897
    reference: chr 3
allele count: 1
allele frequency: 5.661872947571056e-5
allele num: 17662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4554C>T
  hgvsp: ENST00000463781.3:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4554C>T
  hgvsp: ENST00000475231.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12721C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4554C>T
  hgvsp: ENST00000479406.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4554C>T
  hgvsp: ENST00000470451.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4554C>T
  hgvsp: ENST00000477756.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4554C>T
  hgvsp: ENST00000477086.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4554C>T
  hgvsp: ENST00000466475.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4554C>T
  hgvsp: ENST00000480843.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4554C>T
  hgvsp: ENST00000478156.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8571C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4554C>T
  hgvsp: ENST00000462323.1:c.4554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1518Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-195513898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513898
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513898
    reference: chr 3
allele count: 1
allele frequency: 5.64334085778781e-5
allele num: 17720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12722C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4553C>T
  hgvsp: ENSP00000417757.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8572C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4553C>T
  hgvsp: ENSP00000419989.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4553C>T
  hgvsp: ENSP00000420243.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4553C>T
  hgvsp: ENSP00000419798.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4553C>T
  hgvsp: ENSP00000417722.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4553C>T
  hgvsp: ENSP00000417657.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4553C>T
  hgvsp: ENSP00000420439.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4553C>T
  hgvsp: ENSP00000417397.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4553C>T
  hgvsp: ENSP00000417498.3:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4553C>T
  hgvsp: ENSP00000418306.1:p.Ala1518Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1518Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195513898-GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513898
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513850
    reference: chr 3
allele count: 69
allele frequency: 3.893905191873589e-3
allele num: 17720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsp: ENSP00000417657.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsp: ENSP00000418306.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsp: ENSP00000420243.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsp: ENSP00000420439.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsp: ENSP00000417498.3:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsp: ENSP00000419798.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsp: ENSP00000417722.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsp: ENSP00000417757.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsp: ENSP00000417397.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsp: ENSP00000419989.1:p.Val1502_His1517del
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Val1502_His1517del
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-195513900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513900
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513900
    reference: chr 3
allele count: 3
allele frequency: 1.735709326544781e-4
allele num: 17284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4551C>T
  hgvsp: ENST00000463781.3:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4551C>T
  hgvsp: ENST00000477756.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4551C>T
  hgvsp: ENST00000475231.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4551C>T
  hgvsp: ENST00000478156.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4551C>T
  hgvsp: ENST00000462323.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4551C>T
  hgvsp: ENST00000466475.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4551C>T
  hgvsp: ENST00000477086.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4551C>T
  hgvsp: ENST00000470451.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4551C>T
  hgvsp: ENST00000480843.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8574C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12724C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4551C>T
  hgvsp: ENST00000479406.1:c.4551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1517His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-195513904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513904
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513904
    reference: chr 3
allele count: 2
allele frequency: 1.159017153453871e-4
allele num: 17256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4547G>T
  hgvsp: ENSP00000417722.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4547G>T
  hgvsp: ENSP00000419798.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4547G>T
  hgvsp: ENSP00000420243.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8578G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4547G>T
  hgvsp: ENSP00000419989.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4547G>T
  hgvsp: ENSP00000417757.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4547G>T
  hgvsp: ENSP00000420439.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4547G>T
  hgvsp: ENSP00000417657.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12728G>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4547G>T
  hgvsp: ENSP00000417498.3:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4547G>T
  hgvsp: ENSP00000418306.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4547G>T
  hgvsp: ENSP00000417397.1:p.Gly1516Val
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1516Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-195513906-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195513906
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195513906
    reference: chr 3
allele count: 1309
allele frequency: 7.711794509249441e-2
allele num: 16974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.4545A>C
  hgvsp: ENST00000466475.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.4545A>C
  hgvsp: ENST00000470451.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.4545A>C
  hgvsp: ENST00000480843.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.4545A>C
  hgvsp: ENST00000478156.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.83-8580A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.4545A>C
  hgvsp: ENST00000462323.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.4545A>C
  hgvsp: ENST00000477756.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.4545A>C
  hgvsp: ENST00000479406.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.4545A>C
  hgvsp: ENST00000477086.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.4545A>C
  hgvsp: ENST00000475231.1:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.4545A>C
  hgvsp: ENST00000463781.3:c.4545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.83-12730A>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 93
hgvs: p.Thr1515Thr
num of homozygotes: 67
reference allele: T

GenotypeDepth
all individuals: 4469
bin: 9.75e1
variant carriers: 33

GenotypeDepth
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1388
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 2.529510961214165e-3
allele num: 7116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 2.148997134670487e-2
allele num: 1396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.674353381115612e-4
allele num: 6418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.70815e5

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.117e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 2.546e0

MQ
type: SiteQuality
SIO_000300: 3.989e1

GenotypeDepth
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.116235587410408e-4
allele num: 6418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.117e-1

FS
type: SiteQuality
SIO_000300: 2.546e0

MQ
type: SiteQuality
SIO_000300: 3.989e1

QD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 9.70815e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 801
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11920
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.871912693854107e-4
allele num: 6964
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

QD
type: SiteQuality
SIO_000300: 2.689e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 3.581e1

DP
type: SiteQuality
SIO_000300: 9.5141e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

FS
type: SiteQuality
SIO_000300: 2.645e0

GenotypeDepth
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4338
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9654
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.476232654266312e-4
allele num: 6774
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.523e0

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

QD
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 4.432e1

DP
type: SiteQuality
SIO_000300: 9.2929e5

FS
type: SiteQuality
SIO_000300: 5.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.81e-2

GenotypeDepth
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 7.886435331230284e-4
allele num: 1268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6774
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ReadPosRankSum
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SIO_000300: 2.18e0

ClippingRankSum
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SIO_000300: 3.25e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 5.81e-2

BaseQRankSum
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SIO_000300: -2.523e0

FS
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SIO_000300: 5.894e0

QD
type: SiteQuality
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DP
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SIO_000300: 9.2929e5

MQ
type: SiteQuality
SIO_000300: 4.432e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 58

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 4

South Asian
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allele count: 3
allele frequency: 4.585753592173647e-4
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 2.222222222222222e-2
allele num: 270
num of homozygotes: 0

European (Non-Finnish)
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allele count: 42
allele frequency: 7.508044333214158e-3
allele num: 5594
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.439024390243902e-3
allele num: 1230
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.376344086021506e-3
allele num: 186
num of homozygotes: 0

East Asian
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allele count: 30
allele frequency: 8.823529411764706e-2
allele num: 340
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -2.8e-2

DP
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SIO_000300: 9.14946e5

FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 5.67e-2

MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.52e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.836210062431142e-4
allele num: 5446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.247e0

MQ
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SIO_000300: 4.147e1

FS
type: SiteQuality
SIO_000300: 8.327999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
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SIO_000300: -1.2e0

DP
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SIO_000300: 9.10607e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.874062968515742e-4
allele num: 5336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

FS
type: SiteQuality
SIO_000300: 1.7746e1

DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -8.47e-2

MQRankSum
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QD
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SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 3.752e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 202
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.615508885298869e-4
allele num: 6190
num of homozygotes: 0

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

VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: 7.27e-1

DP
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SIO_000300: 9.02089e5

InbreedingCoeff
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SIO_000300: 6.03e-2

ReadPosRankSum
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FS
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QD
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ClippingRankSum
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SIO_000300: -1.036e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
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African
type: Population
allele count: 1
allele frequency: 8.250825082508251e-4
allele num: 1212
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.615508885298869e-4
allele num: 6190
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
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East Asian
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 3.073e0

DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: 6.03e-2

MQ
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SIO_000300: 3.539e1

VQSLOD
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GenotypeDepth
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variant carriers: 277

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 6317
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variant carriers: 5869

African
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allele count: 165
allele frequency: 1.238738738738739e-1
allele num: 1332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2375
allele frequency: 3.089229968782518e-1
allele num: 7688
num of homozygotes: 0

Latino
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allele count: 121
allele frequency: 2.951219512195122e-1
allele num: 410
num of homozygotes: 0

European (Finnish)
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allele count: 595
allele frequency: 3.407789232531501e-1
allele num: 1746
num of homozygotes: 0

East Asian
type: Population
allele count: 272
allele frequency: 4.290220820189274e-1
allele num: 634
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South Asian
type: Population
allele count: 2372
allele frequency: 3.042585941508466e-1
allele num: 7796
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Other
type: Population
allele count: 81
allele frequency: 3.319672131147541e-1
allele num: 244
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InbreedingCoeff
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SIO_000300: -3.55e-2

VQSLOD
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BaseQRankSum
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SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.55236e5

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

FS
type: SiteQuality
SIO_000300: 1.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 3.325e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.180605438686506e-3
allele num: 7796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 7.507507507507507e-4
allele num: 1332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 1.182e0

MQ
type: SiteQuality
SIO_000300: 3.325e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.517e-1

InbreedingCoeff
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SIO_000300: -3.55e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 7.55236e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.282709081580298e-4
allele num: 7796
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 3.325e1

DP
type: SiteQuality
SIO_000300: 7.55236e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.517e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

FS
type: SiteQuality
SIO_000300: 1.182e0

QD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.282709081580298e-4
allele num: 7796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

FS
type: SiteQuality
SIO_000300: 1.182e0

MQ
type: SiteQuality
SIO_000300: 3.325e1

QD
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.517e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 7.55236e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1200
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 532
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GenotypeQuality
all individuals: 215
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.767017155506364e-4
allele num: 3614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.77623542476402e-4
allele num: 3602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.235e1

VQSLOD
type: SiteQuality
SIO_000300: -1.748e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.483e0

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 2.72078e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeDepth
all individuals: 23
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 40
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-3
allele num: 984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.989e1

FS
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
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SIO_000300: 5.66e-2

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.323e0

ReadPosRankSum
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SIO_000300: -7.95e-1

MQRankSum
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SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.61e-1

DP
type: SiteQuality
SIO_000300: 1.53184e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.57653791130186e-4
allele num: 2796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
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MQ
type: SiteQuality
SIO_000300: 3.989e1

DP
type: SiteQuality
SIO_000300: 1.53184e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

FS
type: SiteQuality
SIO_000300: 8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

QD
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.66e-2

GenotypeDepth
all individuals: 93
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variant carriers: 1

GenotypeDepth
all individuals: 99
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variant carriers: 2

GenotypeDepth
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variant carriers: 16

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1052
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1080
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variant carriers: 22

GenotypeQuality
all individuals: 705
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.428571428571429e-3
allele num: 700
num of homozygotes: 0

East Asian
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allele frequency: 1.0e-1
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.17910447761194e-3
allele num: 3350
num of homozygotes: 0

African
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num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 2.802690582959641e-4
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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African
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allele frequency: 1.030927835051546e-3
allele num: 970
num of homozygotes: 0

European (Finnish)
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South 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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BaseQRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 30

Latino
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allele count: 1
allele frequency: 6.172839506172839e-3
allele num: 162
num of homozygotes: 0

South Asian
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East Asian
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Other
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allele num: 76
num of homozygotes: 0

European (Non-Finnish)
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allele count: 24
allele frequency: 8.836524300441826e-3
allele num: 2716
num of homozygotes: 0

African
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allele frequency: 2.159827213822894e-3
allele num: 926
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 2.368e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

African
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allele count: 2
allele frequency: 2.159827213822894e-3
allele num: 926
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.865671641791045e-3
allele num: 536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 15
allele frequency: 5.522827687776142e-3
allele num: 2716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
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FS
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QD
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MQRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

South Asian
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allele frequency: 3.351206434316354e-4
allele num: 2984
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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FS
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MQRankSum
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InbreedingCoeff
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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DP
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QD
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BaseQRankSum
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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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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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Other
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European (Non-Finnish)
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South Asian
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African
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Latino
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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allele num: 3016
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Latino
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VQSLOD
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 3582
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South Asian
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African
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East Asian
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Other
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European (Finnish)
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Latino
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FS
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 2.604166666666667e-4
allele num: 3840
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 7.000000000000001e-2

DP
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SIO_000300: 3.05099e5

InbreedingCoeff
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SIO_000300: -5.96e-2

VQSLOD
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MQ
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SIO_000300: 4.068e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.041666666666667e-3
allele num: 960
num of homozygotes: 0

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

VQSLOD
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BaseQRankSum
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SIO_000300: -8.49e-1

QD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -6.05e-2

MQ
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ReadPosRankSum
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SIO_000300: -4.01e-1

DP
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MQRankSum
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SIO_000300: -7.27e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.321003963011889e-3
allele num: 3028
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 6
allele frequency: 1.7825311942959e-3
allele num: 3366
num of homozygotes: 0

MQRankSum
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SIO_000300: 2.16e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -9.18e-1

QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 1.95458e5

InbreedingCoeff
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SIO_000300: -5.78e-2

MQ
type: SiteQuality
SIO_000300: 2.827e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.083333333333333e-3
allele num: 960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.875968992248062e-4
allele num: 2580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 2.66844563042028e-3
allele num: 2998
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.618e0

MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.55e-2

MQ
type: SiteQuality
SIO_000300: 2.908e1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.735e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.38498e5

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

South Asian
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allele frequency: 3.272251308900524e-4
allele num: 3056
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3046
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Finnish)
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allele num: 636
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South Asian
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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 (Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 45
allele frequency: 2.068014705882353e-2
allele num: 2176
num of homozygotes: 0

African
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allele frequency: 7.8125e-3
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European (Finnish)
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South Asian
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allele frequency: 8.984105044920525e-3
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East Asian
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Latino
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Other
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ClippingRankSum
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DP
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 2176
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Other
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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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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VQSLOD
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QD
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 470
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Other
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African
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East Asian
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: -4.62e-1

ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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African
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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African
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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 (Non-Finnish)
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -4.11e-2

QD
type: SiteQuality
SIO_000300: 4.18e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

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

South Asian
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allele frequency: 2.75027502750275e-4
allele num: 3636
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 90
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
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allele frequency: 4.838709677419355e-2
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South Asian
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allele frequency: 8.397480755773267e-3
allele num: 2858
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 6.84931506849315e-3
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 31
allele frequency: 1.479007633587786e-2
allele num: 2096
num of homozygotes: 0

Latino
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allele frequency: 7.142857142857143e-3
allele num: 140
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MQ
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SIO_000300: 2.884e1

DP
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -4.73e-1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
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allele frequency: 3.498950314905528e-4
allele num: 2858
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

Other
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.24685e5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.398496240601503e-4
allele num: 1064
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
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MQRankSum
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.582278481012658e-3
allele num: 1896
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Other
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East Asian
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InbreedingCoeff
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DP
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QD
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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allele num: 3206
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.295336787564767e-3
allele num: 2316
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Other
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East Asian
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African
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 4.519433564326605e-4
allele num: 6638
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African
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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Latino
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African
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num of homozygotes: 0

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

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

African
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allele num: 1226
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European (Finnish)
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num of homozygotes: 0

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

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

East Asian
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Latino
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South Asian
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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Other
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Latino
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South Asian
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East Asian
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African
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Latino
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

African
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Other
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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QD
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InbreedingCoeff
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DP
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FS
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.0e-2

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 2.620545073375262e-4
allele num: 7632
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QD
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 2.874e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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SIO_000300: -1.8e-1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.621231979030144e-4
allele num: 7630
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -3.12e-2

MQ
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SIO_000300: 2.912e1

FS
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613944480309877e-4
allele num: 6196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

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

DP
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SIO_000300: 2.96886e5

VQSLOD
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InbreedingCoeff
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MQ
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SIO_000300: 2.919e1

FS
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SIO_000300: 5.9942e1

BaseQRankSum
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SIO_000300: -3.5e-1

MQRankSum
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SIO_000300: -2.045e0

QD
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SIO_000300: 2.441e1

ClippingRankSum
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SIO_000300: 2.39e-1

ReadPosRankSum
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SIO_000300: 3.13e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.317523056653491e-4
allele num: 7590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 2.734e1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 2.58e-2

DP
type: SiteQuality
SIO_000300: 2.97857e5

QD
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SIO_000300: 4.4e-1

BaseQRankSum
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SIO_000300: -1.035e0

ReadPosRankSum
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SIO_000300: 5.79e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 68

GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 8.665511265164644e-3
allele num: 1154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 5.494505494505495e-3
allele num: 364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.443298969072165e-4
allele num: 6208
num of homozygotes: 0

South Asian
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allele count: 53
allele frequency: 6.982872200263505e-3
allele num: 7590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.035e0

VQSLOD
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DP
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SIO_000300: 2.97857e5

MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 2
allele frequency: 3.484320557491289e-3
allele num: 574
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1600
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South Asian
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allele count: 1
allele frequency: 1.355748373101952e-4
allele num: 7376
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MQRankSum
type: SiteQuality
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MQ
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 220
num of homozygotes: 0

African
type: Population
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 6088
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European (Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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DP
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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