19-14875449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875449
    reference: chr 19
allele count: 5
allele frequency: 4.474513172966781e-5
allele num: 111744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-27A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-27A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-14875449-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875449
    reference: chr 19
allele count: 3
allele frequency: 2.684707903780069e-5
allele num: 111744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-27A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-27A>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

19-14875456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875456
    reference: chr 19
allele count: 2
allele frequency: 1.80658681552942e-5
allele num: 110706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-34A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-14875470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875470
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875470
    reference: chr 19
allele count: 2
allele frequency: 1.872553976368369e-5
allele num: 106806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-48G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-48G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-14875471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875471
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875471
    reference: chr 19
allele count: 4
allele frequency: 3.755445395823945e-5
allele num: 106512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-49C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-49C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-14875474-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14875474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14875474
    reference: chr 19
allele count: 27
allele frequency: 2.522751480948554e-4
allele num: 107026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.628-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.760-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.760-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.124-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.481-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.907-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.907-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.628-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.438-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.760-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.481-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.907-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.907-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.907-52A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1793-52A>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-14876093-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876093
    reference: chr 19
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+39G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+39G>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

19-14876098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876098
    reference: chr 19
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+34A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+34A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-14876103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876103
    reference: chr 19
allele count: 3
allele frequency: 2.483854942871336e-5
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+29G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+29G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-14876104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876104
    reference: chr 19
allele count: 6
allele frequency: 4.968944099378882e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+28C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+28C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-14876108-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876109
    reference: chr 19
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+23_1792+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+23_627+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+23_480+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+23_480+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+23_906+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+23_123+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+23_437+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+23_759+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+23_906+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+23_906+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+23_759+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+23_906+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+23_627+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+23_906+24insT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+23_759+24insT
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-14876118-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876118
    reference: chr 19
allele count: 2
allele frequency: 1.654478673769895e-5
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+14C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+14C>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

19-14876119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876119
    reference: chr 19
allele count: 73
allele frequency: 6.037348859519989e-4
allele num: 120914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+13C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-14876125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876125
    reference: chr 19
allele count: 4417
allele frequency: 3.652405444291928e-2
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+7A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+7A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 5.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.906+7A>G
num of homozygotes: 130
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-14876126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876126
    reference: chr 19
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+6G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+6G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.906+6G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-14876131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876131
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876131
    reference: chr 19
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.480+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.906+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.627+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.123+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1792+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.906+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.759+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.480+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.759+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.759+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.437+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.906+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.627+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.906+1G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.906+1G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.906+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-14876138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876138
    reference: chr 19
allele count: 2
allele frequency: 1.651718613217052e-5
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.431C>T
  hgvsp: ENST00000595208.1:c.431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.900C>T
  hgvsp: ENST00000392965.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.900C>T
  hgvsp: ENST00000315576.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.621C>T
  hgvsp: ENST00000353876.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.117C>T
  hgvsp: ENST00000392964.3:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1786C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.753C>T
  hgvsp: ENST00000594294.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.900C>T
  hgvsp: ENST00000601345.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.900C>T
  hgvsp: ENST00000392967.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.753C>T
  hgvsp: ENST00000392962.3:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.474C>T
  hgvsp: ENST00000595839.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.474C>T
  hgvsp: ENST00000353005.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.900C>T
  hgvsp: ENST00000596991.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.621C>T
  hgvsp: ENST00000594076.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.753C>T
  hgvsp: ENST00000346057.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr300Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

19-14876143-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876143
    reference: chr 19
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1781A>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.112A>T
  hgvsp: ENSP00000376691.3:p.Asn38Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.426A>T
  hgvsp: ENSP00000469605.1:p.Asn143Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.616A>T
  hgvsp: ENSP00000319454.3:p.Asn206Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.469A>T
  hgvsp: ENSP00000319838.3:p.Asn157Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.895A>T
  hgvsp: ENSP00000472280.2:p.Asn299Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.616A>T
  hgvsp: ENSP00000472735.1:p.Asn206Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.895A>T
  hgvsp: ENSP00000319883.3:p.Asn299Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.748A>T
  hgvsp: ENSP00000470725.1:p.Asn250Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.895A>T
  hgvsp: ENSP00000376692.3:p.Asn299Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.469A>T
  hgvsp: ENSP00000469277.1:p.Asn157Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.895A>T
  hgvsp: ENSP00000376694.2:p.Asn299Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.748A>T
  hgvsp: ENSP00000376689.3:p.Asn250Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.895A>T
  hgvsp: ENSP00000471297.1:p.Asn299Tyr
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.748A>T
  hgvsp: ENSP00000263380.4:p.Asn250Tyr
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn299Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-14876153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876153
    reference: chr 19
allele count: 11
allele frequency: 9.079653322327692e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.885C>T
  hgvsp: ENST00000601345.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.102C>T
  hgvsp: ENST00000392964.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.416C>T
  hgvsp: ENST00000595208.1:c.416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.738C>T
  hgvsp: ENST00000346057.1:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.885C>T
  hgvsp: ENST00000315576.3:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.459C>T
  hgvsp: ENST00000353005.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.738C>T
  hgvsp: ENST00000392962.3:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.738C>T
  hgvsp: ENST00000594294.1:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.606C>T
  hgvsp: ENST00000353876.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.885C>T
  hgvsp: ENST00000392965.3:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.459C>T
  hgvsp: ENST00000595839.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1771C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.885C>T
  hgvsp: ENST00000392967.2:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.885C>T
  hgvsp: ENST00000596991.2:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.606C>T
  hgvsp: ENST00000594076.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Gly295Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-14876155-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876155
    reference: chr 19
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.883G>T
  hgvsp: ENSP00000376694.2:p.Gly295Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.883G>T
  hgvsp: ENSP00000376692.3:p.Gly295Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.457G>T
  hgvsp: ENSP00000469277.1:p.Gly153Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1769G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.457G>T
  hgvsp: ENSP00000319838.3:p.Gly153Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.100G>T
  hgvsp: ENSP00000376691.3:p.Gly34Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.736G>T
  hgvsp: ENSP00000376689.3:p.Gly246Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.604G>T
  hgvsp: ENSP00000472735.1:p.Gly202Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.736G>T
  hgvsp: ENSP00000263380.4:p.Gly246Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.604G>T
  hgvsp: ENSP00000319454.3:p.Gly202Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.883G>T
  hgvsp: ENSP00000471297.1:p.Gly295Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.414G>T
  hgvsp: ENSP00000469605.1:p.Gly139Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.736G>T
  hgvsp: ENSP00000470725.1:p.Gly246Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.883G>T
  hgvsp: ENSP00000319883.3:p.Gly295Cys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.883G>T
  hgvsp: ENSP00000472280.2:p.Gly295Cys
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly295Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-14876163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876163
    reference: chr 19
allele count: 106
allele frequency: 8.752229341436026e-4
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.875A>C
  hgvsp: ENSP00000319883.3:p.Tyr292Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.728A>C
  hgvsp: ENSP00000263380.4:p.Tyr243Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.728A>C
  hgvsp: ENSP00000376689.3:p.Tyr243Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.875A>C
  hgvsp: ENSP00000376692.3:p.Tyr292Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.92A>C
  hgvsp: ENSP00000376691.3:p.Tyr31Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.728A>C
  hgvsp: ENSP00000470725.1:p.Tyr243Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.875A>C
  hgvsp: ENSP00000472280.2:p.Tyr292Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.449A>C
  hgvsp: ENSP00000469277.1:p.Tyr150Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.449A>C
  hgvsp: ENSP00000319838.3:p.Tyr150Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.596A>C
  hgvsp: ENSP00000472735.1:p.Tyr199Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.875A>C
  hgvsp: ENSP00000471297.1:p.Tyr292Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.406A>C
  hgvsp: ENSP00000469605.1:p.Tyr136Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1761A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.596A>C
  hgvsp: ENSP00000319454.3:p.Tyr199Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.875A>C
  hgvsp: ENSP00000376694.2:p.Tyr292Ser
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr292Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-14876174-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876174
    reference: chr 19
allele count: 10
allele frequency: 8.249327679794097e-5
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.585G>C
  hgvsp: ENST00000353876.1:c.585G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.585G>C
  hgvsp: ENST00000594076.1:c.585G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.395G>C
  hgvsp: ENST00000595208.1:c.395G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.81G>C
  hgvsp: ENST00000392964.3:c.81G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.717G>C
  hgvsp: ENST00000346057.1:c.717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.717G>C
  hgvsp: ENST00000594294.1:c.717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.438G>C
  hgvsp: ENST00000353005.1:c.438G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.864G>C
  hgvsp: ENST00000596991.2:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.864G>C
  hgvsp: ENST00000601345.1:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.717G>C
  hgvsp: ENST00000392962.3:c.717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1750G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.864G>C
  hgvsp: ENST00000392965.3:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.864G>C
  hgvsp: ENST00000392967.2:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.438G>C
  hgvsp: ENST00000595839.1:c.438G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.864G>C
  hgvsp: ENST00000315576.3:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu288Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-14876184-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876184
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876184
    reference: chr 19
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.854T>C
  hgvsp: ENSP00000376694.2:p.Val285Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.854T>C
  hgvsp: ENSP00000319883.3:p.Val285Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.854T>C
  hgvsp: ENSP00000472280.2:p.Val285Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.707T>C
  hgvsp: ENSP00000263380.4:p.Val236Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.707T>C
  hgvsp: ENSP00000470725.1:p.Val236Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.71T>C
  hgvsp: ENSP00000376691.3:p.Val24Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.707T>C
  hgvsp: ENSP00000376689.3:p.Val236Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.428T>C
  hgvsp: ENSP00000319838.3:p.Val143Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.575T>C
  hgvsp: ENSP00000472735.1:p.Val192Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.854T>C
  hgvsp: ENSP00000376692.3:p.Val285Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.385T>C
  hgvsp: ENSP00000469605.1:p.Val129Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.575T>C
  hgvsp: ENSP00000319454.3:p.Val192Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.428T>C
  hgvsp: ENSP00000469277.1:p.Val143Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.854T>C
  hgvsp: ENSP00000471297.1:p.Val285Ala
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1740T>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val285Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

19-14876191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876191
    reference: chr 19
allele count: 7
allele frequency: 5.77319587628866e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.421G>A
  hgvsp: ENSP00000319838.3:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.64G>A
  hgvsp: ENSP00000376691.3:p.Asp22Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.421G>A
  hgvsp: ENSP00000469277.1:p.Asp141Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.847G>A
  hgvsp: ENSP00000319883.3:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.568G>A
  hgvsp: ENSP00000319454.3:p.Asp190Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.847G>A
  hgvsp: ENSP00000376692.3:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.847G>A
  hgvsp: ENSP00000472280.2:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.700G>A
  hgvsp: ENSP00000376689.3:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.568G>A
  hgvsp: ENSP00000472735.1:p.Asp190Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.847G>A
  hgvsp: ENSP00000376694.2:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.378G>A
  hgvsp: ENSP00000469605.1:p.Asp127Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.700G>A
  hgvsp: ENSP00000470725.1:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.847G>A
  hgvsp: ENSP00000471297.1:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1733G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.700G>A
  hgvsp: ENSP00000263380.4:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp283Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-14876192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876192
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876192
    reference: chr 19
allele count: 171
allele frequency: 1.410425602111514e-3
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.420C>T
  hgvsp: ENST00000353005.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.567C>T
  hgvsp: ENST00000594076.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.846C>T
  hgvsp: ENST00000392965.3:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.699C>T
  hgvsp: ENST00000594294.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.63C>T
  hgvsp: ENST00000392964.3:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.846C>T
  hgvsp: ENST00000601345.1:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.377C>T
  hgvsp: ENST00000595208.1:c.377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.846C>T
  hgvsp: ENST00000596991.2:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.699C>T
  hgvsp: ENST00000346057.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.699C>T
  hgvsp: ENST00000392962.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.846C>T
  hgvsp: ENST00000392967.2:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1732C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.846C>T
  hgvsp: ENST00000315576.3:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.567C>T
  hgvsp: ENST00000353876.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.420C>T
  hgvsp: ENST00000595839.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe282Phe
num of homozygotes: 1
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-14876195-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876195
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876195
    reference: chr 19
allele count: 1130
allele frequency: 9.321125134042728e-3
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1729C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.417C>A
  hgvsp: ENSP00000469277.1:p.Phe139Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.417C>A
  hgvsp: ENSP00000319838.3:p.Phe139Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.843C>A
  hgvsp: ENSP00000319883.3:p.Phe281Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.564C>A
  hgvsp: ENSP00000472735.1:p.Phe188Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.696C>A
  hgvsp: ENSP00000263380.4:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.696C>A
  hgvsp: ENSP00000470725.1:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.843C>A
  hgvsp: ENSP00000472280.2:p.Phe281Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.843C>A
  hgvsp: ENSP00000471297.1:p.Phe281Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.60C>A
  hgvsp: ENSP00000376691.3:p.Phe20Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.843C>A
  hgvsp: ENSP00000376694.2:p.Phe281Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.843C>A
  hgvsp: ENSP00000376692.3:p.Phe281Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.374C>A
  hgvsp: ENSP00000469605.1:p.Phe125Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.564C>A
  hgvsp: ENSP00000319454.3:p.Phe188Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.696C>A
  hgvsp: ENSP00000376689.3:p.Phe232Leu
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
hgvs: p.Phe281Leu
num of homozygotes: 58
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-14876199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876199
    reference: chr 19
allele count: 9
allele frequency: 7.423904974016333e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.692G>A
  hgvsp: ENSP00000470725.1:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.56G>A
  hgvsp: ENSP00000376691.3:p.Arg19Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.692G>A
  hgvsp: ENSP00000263380.4:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.370G>A
  hgvsp: ENSP00000469605.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.839G>A
  hgvsp: ENSP00000376692.3:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.839G>A
  hgvsp: ENSP00000376694.2:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.413G>A
  hgvsp: ENSP00000319838.3:p.Arg138Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.839G>A
  hgvsp: ENSP00000471297.1:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.839G>A
  hgvsp: ENSP00000472280.2:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1725G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.413G>A
  hgvsp: ENSP00000469277.1:p.Arg138Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.839G>A
  hgvsp: ENSP00000319883.3:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.560G>A
  hgvsp: ENSP00000319454.3:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.692G>A
  hgvsp: ENSP00000376689.3:p.Arg231Gln
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.560G>A
  hgvsp: ENSP00000472735.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg280Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-14876207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876207
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876207
    reference: chr 19
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.684G>A
  hgvsp: ENST00000594294.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.552G>A
  hgvsp: ENST00000353876.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.48G>A
  hgvsp: ENST00000392964.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.831G>A
  hgvsp: ENST00000315576.3:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.831G>A
  hgvsp: ENST00000392965.3:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.405G>A
  hgvsp: ENST00000595839.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.405G>A
  hgvsp: ENST00000353005.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.831G>A
  hgvsp: ENST00000601345.1:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.831G>A
  hgvsp: ENST00000392967.2:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.831G>A
  hgvsp: ENST00000596991.2:c.831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.684G>A
  hgvsp: ENST00000346057.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.684G>A
  hgvsp: ENST00000392962.3:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1717G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.552G>A
  hgvsp: ENST00000594076.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.362G>A
  hgvsp: ENST00000595208.1:c.362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.831G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-14876208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876208
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876208
    reference: chr 19
allele count: 5
allele frequency: 4.124799947202561e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1716C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.683C>T
  hgvsp: ENSP00000263380.4:p.Thr228Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.830C>T
  hgvsp: ENSP00000376692.3:p.Thr277Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.47C>T
  hgvsp: ENSP00000376691.3:p.Thr16Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.830C>T
  hgvsp: ENSP00000472280.2:p.Thr277Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.551C>T
  hgvsp: ENSP00000472735.1:p.Thr184Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.830C>T
  hgvsp: ENSP00000319883.3:p.Thr277Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.683C>T
  hgvsp: ENSP00000470725.1:p.Thr228Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.683C>T
  hgvsp: ENSP00000376689.3:p.Thr228Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.361C>T
  hgvsp: ENSP00000469605.1:p.Thr121Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.830C>T
  hgvsp: ENSP00000471297.1:p.Thr277Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.830C>T
  hgvsp: ENSP00000376694.2:p.Thr277Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.404C>T
  hgvsp: ENSP00000469277.1:p.Thr135Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.551C>T
  hgvsp: ENSP00000319454.3:p.Thr184Met
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.404C>T
  hgvsp: ENSP00000319838.3:p.Thr135Met
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr277Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-14876208-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876208
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876208
    reference: chr 19
allele count: 8
allele frequency: 6.599679915524098e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.830C>A
  hgvsp: ENSP00000471297.1:p.Thr277Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.683C>A
  hgvsp: ENSP00000263380.4:p.Thr228Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.404C>A
  hgvsp: ENSP00000319838.3:p.Thr135Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.830C>A
  hgvsp: ENSP00000472280.2:p.Thr277Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.404C>A
  hgvsp: ENSP00000469277.1:p.Thr135Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.47C>A
  hgvsp: ENSP00000376691.3:p.Thr16Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1716C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.361C>A
  hgvsp: ENSP00000469605.1:p.Thr121Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.830C>A
  hgvsp: ENSP00000376694.2:p.Thr277Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.830C>A
  hgvsp: ENSP00000376692.3:p.Thr277Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.551C>A
  hgvsp: ENSP00000319454.3:p.Thr184Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.683C>A
  hgvsp: ENSP00000470725.1:p.Thr228Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.551C>A
  hgvsp: ENSP00000472735.1:p.Thr184Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.830C>A
  hgvsp: ENSP00000319883.3:p.Thr277Lys
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.683C>A
  hgvsp: ENSP00000376689.3:p.Thr228Lys
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr277Lys
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-14876209-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876209
    reference: chr 19
allele count: 50
allele frequency: 4.124868004223865e-4
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829A>T
  hgvsp: ENSP00000376694.2:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46A>T
  hgvsp: ENSP00000376691.3:p.Thr16Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829A>T
  hgvsp: ENSP00000471297.1:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682A>T
  hgvsp: ENSP00000263380.4:p.Thr228Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829A>T
  hgvsp: ENSP00000319883.3:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829A>T
  hgvsp: ENSP00000376692.3:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550A>T
  hgvsp: ENSP00000319454.3:p.Thr184Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682A>T
  hgvsp: ENSP00000376689.3:p.Thr228Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360A>T
  hgvsp: ENSP00000469605.1:p.Thr121Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403A>T
  hgvsp: ENSP00000319838.3:p.Thr135Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682A>T
  hgvsp: ENSP00000470725.1:p.Thr228Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403A>T
  hgvsp: ENSP00000469277.1:p.Thr135Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715A>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550A>T
  hgvsp: ENSP00000472735.1:p.Thr184Ser
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829A>T
  hgvsp: ENSP00000472280.2:p.Thr277Ser
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr277Ser
num of homozygotes: 2
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-14876213-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876213
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876215
    reference: chr 19
allele count: 11
allele frequency: 9.076207135549028e-5
allele num: 121196
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-6_829-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-6_682-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-6_682-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-6_682-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-6_829-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-6_829-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-6_829-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-6_360-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-6_403-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-6_829-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-6_1715-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-6_550-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-6_550-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-6_46-5dupCT
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-6_403-5dupCT
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.829-6_829-5dupCT
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-14876218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876218
    reference: chr 19
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-9T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-9T>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-14876218-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876215
    reference: chr 19
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-12_829-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-12_829-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-12_360-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-12_1715-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-12_46-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-12_403-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-12_550-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-12_682-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-12_403-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-12_829-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-12_550-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-12_829-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-12_682-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-12_829-10delCTC
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-12_682-10delCTC
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: AGAG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-14876223-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876223
    reference: chr 19
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-14T>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-14T>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-14876227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876227
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876227
    reference: chr 19
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-18C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-18C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-14876230-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876230
    reference: chr 19
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-21C>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-21C>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

19-14876234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876234
    reference: chr 19
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-25A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-25A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

19-14876240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876240
    reference: chr 19
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-31T>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-31T>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

19-14876243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876243
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876243
    reference: chr 19
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-34G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-34G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-14876248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876248
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876248
    reference: chr 19
allele count: 17
allele frequency: 1.405330335295285e-4
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-39G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-39G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-14876249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876249
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876249
    reference: chr 19
allele count: 4
allele frequency: 3.306823630561664e-5
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-40C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-40C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-14876251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876251
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876251
    reference: chr 19
allele count: 244
allele frequency: 2.018163471241171e-3
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-42G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-42G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-14876252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876252
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876252
    reference: chr 19
allele count: 93
allele frequency: 7.689127738735015e-4
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.829-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.682-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.682-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.550-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.403-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1715-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.829-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.550-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.829-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.403-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.829-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.46-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.829-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.682-43C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.360-43C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-14876301-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876301
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876300
    reference: chr 19
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+34delA
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+34delA
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

19-14876306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876306
    reference: chr 19
allele count: 5
allele frequency: 4.159456941301744e-5
allele num: 120208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+30G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+30G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

19-14876307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876307
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876307
    reference: chr 19
allele count: 5
allele frequency: 4.158004158004158e-5
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+29C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+29C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-14876309-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876309
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876309
    reference: chr 19
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+27G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+27G>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-14876309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876309
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876309
    reference: chr 19
allele count: 329
allele frequency: 2.73560274724361e-3
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+27G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+27G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-14876310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876310
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876310
    reference: chr 19
allele count: 7
allele frequency: 5.821980471414076e-5
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+26C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+26C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-14876314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876314
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876314
    reference: chr 19
allele count: 49
allele frequency: 4.072202646100658e-4
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+22G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+22G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13374
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-14876315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876315
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876315
    reference: chr 19
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+21C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+21C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-14876317-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876317
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876317
    reference: chr 19
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+19G>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+19G>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-14876319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876319
    reference: chr 19
allele count: 2
allele frequency: 1.661267547138467e-5
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+17G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+17G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-14876320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876320
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876320
    reference: chr 19
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+16A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+16A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-14876320-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876320
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876320
    reference: chr 19
allele count: 125
allele frequency: 1.038412972685585e-3
allele num: 120376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+16A>C
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+16A>C
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-14876322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876322
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876322
    reference: chr 19
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+14A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+14A>G
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

19-14876323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876323
    reference: chr 19
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+13C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+13C>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-14876329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876329
    reference: chr 19
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+7G>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+7G>A
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.828+7G>A
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: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/19-14876333-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876333
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876333
    reference: chr 19
allele count: 2
allele frequency: 1.659200265472042e-5
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.681+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.828+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.549+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.681+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.45+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.681+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.828+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.828+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.828+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.359+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.549+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.402+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.402+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1714+3G>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.828+3G>T
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.828+3G>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-14876337-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876337
    reference: chr 19
allele count: 16
allele frequency: 1.326809851563148e-4
allele num: 120590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.827A>T
  hgvsp: ENSP00000319883.3:p.Gln276Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.680A>T
  hgvsp: ENSP00000470725.1:p.Gln227Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.680A>T
  hgvsp: ENSP00000376689.3:p.Gln227Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.44A>T
  hgvsp: ENSP00000376691.3:p.Gln15Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.827A>T
  hgvsp: ENSP00000471297.1:p.Gln276Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.827A>T
  hgvsp: ENSP00000472280.2:p.Gln276Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.827A>T
  hgvsp: ENSP00000376692.3:p.Gln276Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.401A>T
  hgvsp: ENSP00000469277.1:p.Gln134Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.401A>T
  hgvsp: ENSP00000319838.3:p.Gln134Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1713A>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.680A>T
  hgvsp: ENSP00000263380.4:p.Gln227Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.827A>T
  hgvsp: ENSP00000376694.2:p.Gln276Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.548A>T
  hgvsp: ENSP00000472735.1:p.Gln183Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.358A>T
  hgvsp: ENSP00000469605.1:p.Gln120Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.548A>T
  hgvsp: ENSP00000319454.3:p.Gln183Leu
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln276Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-14876337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876337
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876337
    reference: chr 19
allele count: 2
allele frequency: 1.658512314453935e-5
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.548A>G
  hgvsp: ENSP00000319454.3:p.Gln183Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.827A>G
  hgvsp: ENSP00000376692.3:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.680A>G
  hgvsp: ENSP00000263380.4:p.Gln227Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.44A>G
  hgvsp: ENSP00000376691.3:p.Gln15Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.401A>G
  hgvsp: ENSP00000469277.1:p.Gln134Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.827A>G
  hgvsp: ENSP00000376694.2:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.680A>G
  hgvsp: ENSP00000376689.3:p.Gln227Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.548A>G
  hgvsp: ENSP00000472735.1:p.Gln183Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.680A>G
  hgvsp: ENSP00000470725.1:p.Gln227Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.827A>G
  hgvsp: ENSP00000471297.1:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.401A>G
  hgvsp: ENSP00000319838.3:p.Gln134Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1713A>G
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.827A>G
  hgvsp: ENSP00000472280.2:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.827A>G
  hgvsp: ENSP00000319883.3:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.358A>G
  hgvsp: ENSP00000469605.1:p.Gln120Arg
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln276Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-14876345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876345
    reference: chr 19
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.819C>T
  hgvsp: ENST00000392965.3:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.36C>T
  hgvsp: ENST00000392964.3:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.672C>T
  hgvsp: ENST00000392962.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.540C>T
  hgvsp: ENST00000353876.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.350C>T
  hgvsp: ENST00000595208.1:c.350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.672C>T
  hgvsp: ENST00000346057.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.540C>T
  hgvsp: ENST00000594076.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.819C>T
  hgvsp: ENST00000392967.2:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.819C>T
  hgvsp: ENST00000601345.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.393C>T
  hgvsp: ENST00000595839.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.672C>T
  hgvsp: ENST00000594294.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1705C>T
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.393C>T
  hgvsp: ENST00000353005.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.819C>T
  hgvsp: ENST00000315576.3:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.819C>T
  hgvsp: ENST00000596991.2:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val273Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-14876345-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876345
    reference: chr 19
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472735
  ensembl transcript: ENST00000594076
  gene symbol: EMR2
  hgvsc: ENST00000594076.1:c.540C>A
  hgvsp: ENST00000594076.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469277
  ensembl transcript: ENST00000595839
  gene symbol: EMR2
  hgvsc: ENST00000595839.1:c.393C>A
  hgvsp: ENST00000595839.1:c.393C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000471297
  ensembl transcript: ENST00000601345
  gene symbol: EMR2
  hgvsc: ENST00000601345.1:c.819C>A
  hgvsp: ENST00000601345.1:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376689
  ensembl transcript: ENST00000392962
  gene symbol: EMR2
  hgvsc: ENST00000392962.3:c.672C>A
  hgvsp: ENST00000392962.3:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376691
  ensembl transcript: ENST00000392964
  gene symbol: EMR2
  hgvsc: ENST00000392964.3:c.36C>A
  hgvsp: ENST00000392964.3:c.36C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319883
  ensembl transcript: ENST00000315576
  gene symbol: EMR2
  hgvsc: ENST00000315576.3:c.819C>A
  hgvsp: ENST00000315576.3:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.819C>A
  hgvsp: ENST00000392965.3:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.350C>A
  hgvsp: ENST00000595208.1:c.350C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376694
  ensembl transcript: ENST00000392967
  gene symbol: EMR2
  hgvsc: ENST00000392967.2:c.819C>A
  hgvsp: ENST00000392967.2:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000263380
  ensembl transcript: ENST00000346057
  gene symbol: EMR2
  hgvsc: ENST00000346057.1:c.672C>A
  hgvsp: ENST00000346057.1:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319838
  ensembl transcript: ENST00000353005
  gene symbol: EMR2
  hgvsc: ENST00000353005.1:c.393C>A
  hgvsp: ENST00000353005.1:c.393C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000470725
  ensembl transcript: ENST00000594294
  gene symbol: EMR2
  hgvsc: ENST00000594294.1:c.672C>A
  hgvsp: ENST00000594294.1:c.672C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000319454
  ensembl transcript: ENST00000353876
  gene symbol: EMR2
  hgvsc: ENST00000353876.1:c.540C>A
  hgvsp: ENST00000353876.1:c.540C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127507
  ensembl transcript: ENST00000360222
  gene symbol: EMR2
  hgvsc: ENST00000360222.4:n.1705C>A
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000472280
  ensembl transcript: ENST00000596991
  gene symbol: EMR2
  hgvsc: ENST00000596991.2:c.819C>A
  hgvsp: ENST00000596991.2:c.819C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val273Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-14876347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14876347
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 14876347
    reference: chr 19
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000469605
  ensembl transcript: ENST00000595208
  gene symbol: EMR2
  hgvsc: ENST00000595208.1:c.348G>C
  hgvsp: ENSP00000469605.1:p.Val117Leu
  variant of: http://identifiers.org/hgnc/3337
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127507
  ensembl protein: ENSP00000376692
  ensembl transcript: ENST00000392965
  gene symbol: EMR2
  hgvsc: ENST00000392965.3:c.817G>C
  hgvsp: ENSP00000376692.3:p.Val273Leu
  variant of: http://identifiers.org/hgnc/3337
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Val273Leu
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 25
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2283
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 69
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 27622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.082767539605561e-5
allele num: 61860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.40958e6

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 5.223e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeDepth
all individuals: 3452
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7682
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3638
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15030
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.849660523763336e-5
allele num: 61860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 5.223e0

DP
type: SiteQuality
SIO_000300: 1.40958e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

Latino
type: Population
allele count: 1
allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19161105815062e-4
allele num: 8392
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12932
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.363191e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 2.375e0

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.931e1

ClippingRankSum
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SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
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BaseQRankSum
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SIO_000300: -1.434e0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.673640167364017e-5
allele num: 59750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.558712769599452e-5
allele num: 11684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 1.275108e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 8.554e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
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SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.590226213089276e-4
allele num: 11582
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.675996379847819e-5
allele num: 59666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

FS
type: SiteQuality
SIO_000300: 5.517e0

VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
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SIO_000300: 1.274224e6

ReadPosRankSum
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SIO_000300: -1.286e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

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

African
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allele count: 26
allele frequency: 2.903081732916481e-3
allele num: 8956
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.670341417785795e-5
allele num: 59868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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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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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: 0
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allele num: 66168
num of homozygotes: 0

East Asian
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6612
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African
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South Asian
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 8646
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

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

European (Finnish)
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num of homozygotes: 0

African
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Other
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South Asian
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.009e1

GenotypeDepth
all individuals: 253
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6842
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3307
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2569
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5925
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5326
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44447
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020874241005347e-5
allele num: 66206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 2.942e0

DP
type: SiteQuality
SIO_000300: 3.146333e6

GenotypeDepth
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3306
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1884
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4903
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4354
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2219
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44449
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2413
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.895193977996526e-4
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 4.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

DP
type: SiteQuality
SIO_000300: 3.147398e6

GenotypeDepth
all individuals: 3307
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5326
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2570
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1304
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2218
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 5.8e0

MQ
type: SiteQuality
SIO_000300: 5.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 3.148842e6

GenotypeDepth
all individuals: 2570
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7157
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5326
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6847
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1305
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44460
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018047926601074e-5
allele num: 66268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.068e1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.358e0

DP
type: SiteQuality
SIO_000300: 3.150819e6

FS
type: SiteQuality
SIO_000300: 1.539e0

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeDepth
all individuals: 6465
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7151
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 5935
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2248
bin: 9.75e1
variant carriers: 35

GenotypeDepth
all individuals: 2474
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6838
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1476
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44474
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 68
allele frequency: 6.554848660111818e-3
allele num: 10374
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.322268326417704e-4
allele num: 11568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

DP
type: SiteQuality
SIO_000300: 3.154232e6

QD
type: SiteQuality
SIO_000300: 1.348e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.044e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 1.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeDepth
all individuals: 2555
bin: 7.25e1
variant carriers: 164

GenotypeDepth
all individuals: 3208
bin: 6.75e1
variant carriers: 110

GenotypeDepth
all individuals: 4613
bin: 3.25e1
variant carriers: 20

GenotypeDepth
all individuals: 5524
bin: 3.75e1
variant carriers: 23

GenotypeDepth
all individuals: 1140
bin: 8.75e1
variant carriers: 244

GenotypeDepth
all individuals: 132
bin: 1.25e1
variant carriers: 7

GenotypeDepth
all individuals: 1906
bin: 7.75e1
variant carriers: 146

GenotypeDepth
all individuals: 6063
bin: 5.25e1
variant carriers: 67

GenotypeDepth
all individuals: 6345
bin: 4.25e1
variant carriers: 38

GenotypeDepth
all individuals: 4159
bin: 6.25e1
variant carriers: 99

GenotypeDepth
all individuals: 4829
bin: 9.75e1
variant carriers: 2722

GenotypeDepth
all individuals: 6686
bin: 4.75e1
variant carriers: 66

GenotypeQuality
all individuals: 1903
bin: 7.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2038
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45374
bin: 9.75e1
variant carriers: 4285

GenotypeQuality
all individuals: 2059
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 83
allele frequency: 7.996146435452794e-3
allele num: 10380
num of homozygotes: 1

South Asian
type: Population
allele count: 790
allele frequency: 4.786138373924633e-2
allele num: 16506
num of homozygotes: 28

European (Finnish)
type: Population
allele count: 399
allele frequency: 6.032657998185667e-2
allele num: 6614
num of homozygotes: 12

Latino
type: Population
allele count: 499
allele frequency: 4.313623789764869e-2
allele num: 11568
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 1761
allele frequency: 2.655227526311028e-2
allele num: 66322
num of homozygotes: 28

East Asian
type: Population
allele count: 848
allele frequency: 9.812543392733164e-2
allele num: 8642
num of homozygotes: 53

Other
type: Population
allele count: 37
allele frequency: 4.1019955654102e-2
allele num: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

MQ
type: SiteQuality
SIO_000300: 5.012e1

FS
type: SiteQuality
SIO_000300: 1.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 3.401568e6

GenotypeDepth
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2347
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5775
bin: 3.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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allele frequency: 9.635767970707265e-5
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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
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num of homozygotes: 0

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 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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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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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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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

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

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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European (Finnish)
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

Other
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DP
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -2.004e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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ReadPosRankSum
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FS
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SIO_000300: 6.42e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66446
num of homozygotes: 0

African
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European (Finnish)
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Latino
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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allele frequency: 6.662628709872804e-4
allele num: 16510
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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QD
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MQRankSum
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BaseQRankSum
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FS
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
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Other
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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SIO_000300: 4.918e1

DP
type: SiteQuality
SIO_000300: 3.19397e6

VQSLOD
type: SiteQuality
SIO_000300: -5.024e-1

FS
type: SiteQuality
SIO_000300: 4.479e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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GenotypeDepth
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GenotypeDepth
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variant carriers: 80

GenotypeDepth
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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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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
all individuals: 20
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variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 61
allele frequency: 5.876685934489403e-3
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.01666616527782e-4
allele num: 66482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 3.203025e6

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.592e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.057e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

MQ
type: SiteQuality
SIO_000300: 4.944e1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 3.200684e6

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.92e0

MQ
type: SiteQuality
SIO_000300: 5.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.200449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
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SIO_000300: -2.532e0

FS
type: SiteQuality
SIO_000300: 2.718e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504098729844158e-5
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.762e1

BaseQRankSum
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SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.722e-1

QD
type: SiteQuality
SIO_000300: 2.069e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 170

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.303501711814523e-4
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

African
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allele count: 141
allele frequency: 1.357074109720885e-2
allele num: 10390
num of homozygotes: 1

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.018e-1

InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.176e0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 40

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
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European (Non-Finnish)
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allele frequency: 9.010903192863365e-5
allele num: 66586
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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num of homozygotes: 0

African
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allele frequency: 1.049085659287777e-1
allele num: 10390
num of homozygotes: 58

Latino
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allele frequency: 2.506049083995852e-3
allele num: 11572
num of homozygotes: 0

Other
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allele frequency: 4.415011037527594e-3
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: -2.67e-1

InbreedingCoeff
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SIO_000300: 8.77e-2

FS
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SIO_000300: 1.189e0

MQ
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SIO_000300: 4.665e1

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
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SIO_000300: 2.8e0

QD
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SIO_000300: 1.228e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66584
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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DP
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SIO_000300: 3.199436e6

MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 8.5e-1

MQRankSum
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SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 1

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

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

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

Other
type: Population
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: -2.286e0

ClippingRankSum
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SIO_000300: 1.17e0

BaseQRankSum
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SIO_000300: 1.76e0

MQRankSum
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SIO_000300: -2.19e-1

MQ
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SIO_000300: 4.664e1

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.32e0

FS
type: SiteQuality
SIO_000300: 9.831e0

DP
type: SiteQuality
SIO_000300: 3.198315e6

ReadPosRankSum
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SIO_000300: 1.24e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 1994
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele 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
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Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -2.8e-1

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

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

European (Non-Finnish)
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allele frequency: 9.012256669069935e-5
allele num: 66576
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African
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European (Finnish)
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Other
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South Asian
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Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

African
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.967538759689923e-3
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European (Finnish)
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East Asian
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Latino
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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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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num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 1.058361052313275e-3
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num of homozygotes: 0

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

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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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South Asian
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African
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VQSLOD
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FS
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ReadPosRankSum
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QD
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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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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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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: 66546
num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
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Other
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South Asian
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Latino
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num of homozygotes: 0

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

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

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

Other
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66452
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Latino
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allele frequency: 0.0e0
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East Asian
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 17

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

European (Non-Finnish)
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allele num: 66412
num of homozygotes: 0

South Asian
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allele num: 16502
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Latino
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African
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Other
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East Asian
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MQ
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MQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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Latino
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South Asian
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Other
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East Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 11570
num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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allele num: 66366
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European (Finnish)
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Other
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East Asian
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FS
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ReadPosRankSum
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QD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.656876035547522e-4
allele num: 66390
num of homozygotes: 0

African
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allele count: 78
allele frequency: 7.550822846079381e-3
allele num: 10330
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3251e1

QD
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SIO_000300: 1.134e1

MQ
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SIO_000300: 3.267e1

MQRankSum
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BaseQRankSum
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SIO_000300: 1.94e0

InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 10252
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

South Asian
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allele num: 16370
num of homozygotes: 0

Other
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FS
type: SiteQuality
SIO_000300: 1.5894e1

BaseQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -7.0e-4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.546832373446499e-5
allele num: 65980
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -4.25e-1

QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.105e0

InbreedingCoeff
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SIO_000300: -1.1e-3

DP
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SIO_000300: 2.076422e6

MQ
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SIO_000300: 3.263e1

FS
type: SiteQuality
SIO_000300: 2.836e0

VQSLOD
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SIO_000300: -3.467e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

South Asian
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allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
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East Asian
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allele count: 1
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allele num: 8612
num of homozygotes: 0

European (Finnish)
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allele count: 0
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 3.258e1

QD
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-3

BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.97e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

Latino
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allele num: 11532
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

Other
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South Asian
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East Asian
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FS
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SIO_000300: 2.1716e1

BaseQRankSum
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MQ
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SIO_000300: 3.244e1

ClippingRankSum
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QD
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 19

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele count: 7
allele frequency: 8.128193218764515e-4
allele num: 8612
num of homozygotes: 0

South Asian
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allele frequency: 1.650770359501101e-3
allele num: 16356
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European (Finnish)
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Other
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African
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allele frequency: 2.694786174575278e-2
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Latino
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allele frequency: 1.127297953520638e-3
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.085953116481919e-5
allele num: 66036
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQ
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QD
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MQRankSum
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DP
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FS
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ClippingRankSum
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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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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.573692023387561e-5
allele num: 66018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.074715e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 3.247e1

FS
type: SiteQuality
SIO_000300: 3.618e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
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SIO_000300: -4.218e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.083477155054956e-5
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.803355442840422e-4
allele num: 10252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.832620647525962e-3
allele num: 16370
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.076398e6

VQSLOD
type: SiteQuality
SIO_000300: -4.089e0

QD
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
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SIO_000300: 8.6e-3

BaseQRankSum
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FS
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SIO_000300: 4.041e0

MQRankSum
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SIO_000300: 2.54e-1

MQ
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SIO_000300: 3.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

GenotypeDepth
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

DP
type: SiteQuality
SIO_000300: 2.076667e6

VQSLOD
type: SiteQuality
SIO_000300: -4.272e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 7.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.43e0

MQ
type: SiteQuality
SIO_000300: 3.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 266
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.368e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 2.077923e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.748e0

MQ
type: SiteQuality
SIO_000300: 3.377e1

FS
type: SiteQuality
SIO_000300: 4.5314e1

QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.22040517451794e-4
allele num: 16388
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
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East Asian
type: Population
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: 6590
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.750390015600624e-5
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South Asian
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allele frequency: 7.447198144304725e-3
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MQ
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QD
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0.0e0
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East Asian
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Other
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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DP
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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African
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European (Non-Finnish)
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allele num: 66096
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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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FS
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.021148036253776e-5
allele num: 66200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 3.42e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.7e-2

FS
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SIO_000300: 2.6354e1

DP
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SIO_000300: 2.083028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 3.236e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.25e1
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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allele frequency: 0.0e0
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African
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Latino
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ReadPosRankSum
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SIO_000300: -1.898e0

MQRankSum
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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DP
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SIO_000300: 2.090418e6

FS
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SIO_000300: 9.339e0

ClippingRankSum
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SIO_000300: 1.85e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66306
num of homozygotes: 0

South Asian
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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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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.999e0

ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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